Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406327_151406334delCA2586964174POGZc.2751_2758del (p.Thr918SerfsTer?)
c.2544_2551del (p.Thr849SerfsTer?)
c.2703_2710del (p.Thr902SerfsTer?)
c.2724_2731del (p.Thr909SerfsTer?)
n.2851_2858del
c.2418_2425del (p.Thr807SerfsTer?)
c.2676_2683del (p.Thr893SerfsTer?)
c.2571_2578del (p.Thr858SerfsTer?)
c.903_910del (p.Thr302SerfsTer?)
c.2517_2524del (p.Thr840SerfsTer?)
c.2595_2602del (p.Thr866SerfsTer?)
c.2346_2353del (p.Thr783SerfsTer?)
c.2577_2584del (p.Thr860SerfsTer?)
c.1503_1510del (p.Thr502SerfsTer?)
n.2558_2565del
1g.151406327_151406337delCA2573131064POGZc.2748_2758del (p.Leu917SerfsTer?)
c.2541_2551del (p.Leu848SerfsTer?)
c.2700_2710del (p.Leu901SerfsTer?)
c.2721_2731del (p.Leu908SerfsTer?)
n.2848_2858del
c.2415_2425del (p.Leu806SerfsTer?)
c.2673_2683del (p.Leu892SerfsTer?)
c.2568_2578del (p.Leu857SerfsTer?)
c.900_910del (p.Leu301SerfsTer?)
c.2514_2524del (p.Leu839SerfsTer?)
c.2592_2602del (p.Leu865SerfsTer?)
c.2343_2353del (p.Leu782SerfsTer?)
c.2574_2584del (p.Leu859SerfsTer?)
c.1500_1510del (p.Leu501SerfsTer?)
n.2555_2565del
 ClinVar dbSNP
1g.151406328delCA2580061028POGZc.2757del (p.Leu920Ter)
c.2550del (p.Leu851Ter)
c.2709del (p.Leu904Ter)
c.2730del (p.Leu911Ter)
n.2857del
c.2424del (p.Leu809Ter)
c.2682del (p.Leu895Ter)
c.2577del (p.Leu860Ter)
c.909del (p.Leu304Ter)
c.2523del (p.Leu842Ter)
c.2601del (p.Leu868Ter)
c.2352del (p.Leu785Ter)
c.2583del (p.Leu862Ter)
c.1509del (p.Leu504Ter)
n.2564del
 ClinVar
1g.151406327G>ACA341949378POGZc.2756C>T (p.Pro919Leu)
c.2549C>T (p.Pro850Leu)
c.2708C>T (p.Pro903Leu)
c.2729C>T (p.Pro910Leu)
n.2856C>T
c.2423C>T (p.Pro808Leu)
c.2681C>T (p.Pro894Leu)
c.2576C>T (p.Pro859Leu)
c.908C>T (p.Pro303Leu)
c.2522C>T (p.Pro841Leu)
c.2600C>T (p.Pro867Leu)
c.2351C>T (p.Pro784Leu)
c.2582C>T (p.Pro861Leu)
c.1508C>T (p.Pro503Leu)
n.2563C>T
1g.151406327G>CCA341949380POGZc.2756C>G (p.Pro919Arg)
c.2549C>G (p.Pro850Arg)
c.2708C>G (p.Pro903Arg)
c.2729C>G (p.Pro910Arg)
n.2856C>G
c.2423C>G (p.Pro808Arg)
c.2681C>G (p.Pro894Arg)
c.2576C>G (p.Pro859Arg)
c.908C>G (p.Pro303Arg)
c.2522C>G (p.Pro841Arg)
c.2600C>G (p.Pro867Arg)
c.2351C>G (p.Pro784Arg)
c.2582C>G (p.Pro861Arg)
c.1508C>G (p.Pro503Arg)
n.2563C>G
1g.151406327G>TCA341949375POGZc.2756C>A (p.Pro919His)
c.2549C>A (p.Pro850His)
c.2708C>A (p.Pro903His)
c.2729C>A (p.Pro910His)
n.2856C>A
c.2423C>A (p.Pro808His)
c.2681C>A (p.Pro894His)
c.2576C>A (p.Pro859His)
c.908C>A (p.Pro303His)
c.2522C>A (p.Pro841His)
c.2600C>A (p.Pro867His)
c.2351C>A (p.Pro784His)
c.2582C>A (p.Pro861His)
c.1508C>A (p.Pro503His)
n.2563C>A
1g.151406328G>ACA341949385POGZc.2755C>T (p.Pro919Ser)
c.2548C>T (p.Pro850Ser)
c.2707C>T (p.Pro903Ser)
c.2728C>T (p.Pro910Ser)
n.2855C>T
c.2422C>T (p.Pro808Ser)
c.2680C>T (p.Pro894Ser)
c.2575C>T (p.Pro859Ser)
c.907C>T (p.Pro303Ser)
c.2521C>T (p.Pro841Ser)
c.2599C>T (p.Pro867Ser)
c.2350C>T (p.Pro784Ser)
c.2581C>T (p.Pro861Ser)
c.1507C>T (p.Pro503Ser)
n.2562C>T
 gnomAD v4
1g.151406328G>CCA341949391POGZc.2755C>G (p.Pro919Ala)
c.2548C>G (p.Pro850Ala)
c.2707C>G (p.Pro903Ala)
c.2728C>G (p.Pro910Ala)
n.2855C>G
c.2422C>G (p.Pro808Ala)
c.2680C>G (p.Pro894Ala)
c.2575C>G (p.Pro859Ala)
c.907C>G (p.Pro303Ala)
c.2521C>G (p.Pro841Ala)
c.2599C>G (p.Pro867Ala)
c.2350C>G (p.Pro784Ala)
c.2581C>G (p.Pro861Ala)
c.1507C>G (p.Pro503Ala)
n.2562C>G
1g.151406328G>TCA341949387POGZc.2755C>A (p.Pro919Thr)
c.2548C>A (p.Pro850Thr)
c.2707C>A (p.Pro903Thr)
c.2728C>A (p.Pro910Thr)
n.2855C>A
c.2422C>A (p.Pro808Thr)
c.2680C>A (p.Pro894Thr)
c.2575C>A (p.Pro859Thr)
c.907C>A (p.Pro303Thr)
c.2521C>A (p.Pro841Thr)
c.2599C>A (p.Pro867Thr)
c.2350C>A (p.Pro784Thr)
c.2581C>A (p.Pro861Thr)
c.1507C>A (p.Pro503Thr)
n.2562C>A
 gnomAD v4
1g.151406329A=CA2479570608POGZc.2754T= (p.Thr918=)
c.2547T= (p.Thr849=)
c.2706T= (p.Thr902=)
c.2727T= (p.Thr909=)
n.2854T=
c.2421T= (p.Thr807=)
c.2679T= (p.Thr893=)
c.2574T= (p.Thr858=)
c.906T= (p.Thr302=)
c.2520T= (p.Thr840=)
c.2598T= (p.Thr866=)
c.2349T= (p.Thr783=)
c.2580T= (p.Thr860=)
c.1506T= (p.Thr502=)
n.2561T=
1g.151406329A>CCA420910431POGZc.2754T>G (p.Thr918=)
c.2547T>G (p.Thr849=)
c.2706T>G (p.Thr902=)
c.2727T>G (p.Thr909=)
n.2854T>G
c.2421T>G (p.Thr807=)
c.2679T>G (p.Thr893=)
c.2574T>G (p.Thr858=)
c.906T>G (p.Thr302=)
c.2520T>G (p.Thr840=)
c.2598T>G (p.Thr866=)
c.2349T>G (p.Thr783=)
c.2580T>G (p.Thr860=)
c.1506T>G (p.Thr502=)
n.2561T>G
1g.151406329A>GCA420910430POGZc.2754T>C (p.Thr918=)
c.2547T>C (p.Thr849=)
c.2706T>C (p.Thr902=)
c.2727T>C (p.Thr909=)
n.2854T>C
c.2421T>C (p.Thr807=)
c.2679T>C (p.Thr893=)
c.2574T>C (p.Thr858=)
c.906T>C (p.Thr302=)
c.2520T>C (p.Thr840=)
c.2598T>C (p.Thr866=)
c.2349T>C (p.Thr783=)
c.2580T>C (p.Thr860=)
c.1506T>C (p.Thr502=)
n.2561T>C
1g.151406329A>TCA29569403POGZc.2754T>A (p.Thr918=)
c.2547T>A (p.Thr849=)
c.2706T>A (p.Thr902=)
c.2727T>A (p.Thr909=)
n.2854T>A
c.2421T>A (p.Thr807=)
c.2679T>A (p.Thr893=)
c.2574T>A (p.Thr858=)
c.906T>A (p.Thr302=)
c.2520T>A (p.Thr840=)
c.2598T>A (p.Thr866=)
c.2349T>A (p.Thr783=)
c.2580T>A (p.Thr860=)
c.1506T>A (p.Thr502=)
n.2561T>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406330G>ACA341949404POGZc.2753C>T (p.Thr918Ile)
c.2546C>T (p.Thr849Ile)
c.2705C>T (p.Thr902Ile)
c.2726C>T (p.Thr909Ile)
n.2853C>T
c.2420C>T (p.Thr807Ile)
c.2678C>T (p.Thr893Ile)
c.2573C>T (p.Thr858Ile)
c.905C>T (p.Thr302Ile)
c.2519C>T (p.Thr840Ile)
c.2597C>T (p.Thr866Ile)
c.2348C>T (p.Thr783Ile)
c.2579C>T (p.Thr860Ile)
c.1505C>T (p.Thr502Ile)
n.2560C>T
 ClinVar dbSNP gnomAD v4
1g.151406330G>CCA341949399POGZc.2753C>G (p.Thr918Ser)
c.2546C>G (p.Thr849Ser)
c.2705C>G (p.Thr902Ser)
c.2726C>G (p.Thr909Ser)
n.2853C>G
c.2420C>G (p.Thr807Ser)
c.2678C>G (p.Thr893Ser)
c.2573C>G (p.Thr858Ser)
c.905C>G (p.Thr302Ser)
c.2519C>G (p.Thr840Ser)
c.2597C>G (p.Thr866Ser)
c.2348C>G (p.Thr783Ser)
c.2579C>G (p.Thr860Ser)
c.1505C>G (p.Thr502Ser)
n.2560C>G
 dbSNP
1g.151406330G=CA2479570609POGZc.2753C= (p.Thr918=)
c.2546C= (p.Thr849=)
c.2705C= (p.Thr902=)
c.2726C= (p.Thr909=)
n.2853C=
c.2420C= (p.Thr807=)
c.2678C= (p.Thr893=)
c.2573C= (p.Thr858=)
c.905C= (p.Thr302=)
c.2519C= (p.Thr840=)
c.2597C= (p.Thr866=)
c.2348C= (p.Thr783=)
c.2579C= (p.Thr860=)
c.1505C= (p.Thr502=)
n.2560C=
1g.151406330G>TCA341949402POGZc.2753C>A (p.Thr918Asn)
c.2546C>A (p.Thr849Asn)
c.2705C>A (p.Thr902Asn)
c.2726C>A (p.Thr909Asn)
n.2853C>A
c.2420C>A (p.Thr807Asn)
c.2678C>A (p.Thr893Asn)
c.2573C>A (p.Thr858Asn)
c.905C>A (p.Thr302Asn)
c.2519C>A (p.Thr840Asn)
c.2597C>A (p.Thr866Asn)
c.2348C>A (p.Thr783Asn)
c.2579C>A (p.Thr860Asn)
c.1505C>A (p.Thr502Asn)
n.2560C>A
1g.151406331T>ACA341949405POGZc.2752A>T (p.Thr918Ser)
c.2545A>T (p.Thr849Ser)
c.2704A>T (p.Thr902Ser)
c.2725A>T (p.Thr909Ser)
n.2852A>T
c.2419A>T (p.Thr807Ser)
c.2677A>T (p.Thr893Ser)
c.2572A>T (p.Thr858Ser)
c.904A>T (p.Thr302Ser)
c.2518A>T (p.Thr840Ser)
c.2596A>T (p.Thr866Ser)
c.2347A>T (p.Thr783Ser)
c.2578A>T (p.Thr860Ser)
c.1504A>T (p.Thr502Ser)
n.2559A>T
1g.151406331T>CCA341949408POGZc.2752A>G (p.Thr918Ala)
c.2545A>G (p.Thr849Ala)
c.2704A>G (p.Thr902Ala)
c.2725A>G (p.Thr909Ala)
n.2852A>G
c.2419A>G (p.Thr807Ala)
c.2677A>G (p.Thr893Ala)
c.2572A>G (p.Thr858Ala)
c.904A>G (p.Thr302Ala)
c.2518A>G (p.Thr840Ala)
c.2596A>G (p.Thr866Ala)
c.2347A>G (p.Thr783Ala)
c.2578A>G (p.Thr860Ala)
c.1504A>G (p.Thr502Ala)
n.2559A>G
1g.151406331T>GCA341949410POGZc.2752A>C (p.Thr918Pro)
c.2545A>C (p.Thr849Pro)
c.2704A>C (p.Thr902Pro)
c.2725A>C (p.Thr909Pro)
n.2852A>C
c.2419A>C (p.Thr807Pro)
c.2677A>C (p.Thr893Pro)
c.2572A>C (p.Thr858Pro)
c.904A>C (p.Thr302Pro)
c.2518A>C (p.Thr840Pro)
c.2596A>C (p.Thr866Pro)
c.2347A>C (p.Thr783Pro)
c.2578A>C (p.Thr860Pro)
c.1504A>C (p.Thr502Pro)
n.2559A>C
 dbSNP
1g.151406331T=CA2479570610POGZc.2752A= (p.Thr918=)
c.2545A= (p.Thr849=)
c.2704A= (p.Thr902=)
c.2725A= (p.Thr909=)
n.2852A=
c.2419A= (p.Thr807=)
c.2677A= (p.Thr893=)
c.2572A= (p.Thr858=)
c.904A= (p.Thr302=)
c.2518A= (p.Thr840=)
c.2596A= (p.Thr866=)
c.2347A= (p.Thr783=)
c.2578A= (p.Thr860=)
c.1504A= (p.Thr502=)
n.2559A=
1g.151406332T>ACA420910439POGZc.2751A>T (p.Leu917=)
c.2544A>T (p.Leu848=)
c.2703A>T (p.Leu901=)
c.2724A>T (p.Leu908=)
n.2851A>T
c.2418A>T (p.Leu806=)
c.2676A>T (p.Leu892=)
c.2571A>T (p.Leu857=)
c.903A>T (p.Leu301=)
c.2517A>T (p.Leu839=)
c.2595A>T (p.Leu865=)
c.2346A>T (p.Leu782=)
c.2577A>T (p.Leu859=)
c.1503A>T (p.Leu501=)
n.2558A>T
1g.151406332T>CCA420910440POGZc.2751A>G (p.Leu917=)
c.2544A>G (p.Leu848=)
c.2703A>G (p.Leu901=)
c.2724A>G (p.Leu908=)
n.2851A>G
c.2418A>G (p.Leu806=)
c.2676A>G (p.Leu892=)
c.2571A>G (p.Leu857=)
c.903A>G (p.Leu301=)
c.2517A>G (p.Leu839=)
c.2595A>G (p.Leu865=)
c.2346A>G (p.Leu782=)
c.2577A>G (p.Leu859=)
c.1503A>G (p.Leu501=)
n.2558A>G
1g.151406332T>GCA420910441POGZc.2751A>C (p.Leu917=)
c.2544A>C (p.Leu848=)
c.2703A>C (p.Leu901=)
c.2724A>C (p.Leu908=)
n.2851A>C
c.2418A>C (p.Leu806=)
c.2676A>C (p.Leu892=)
c.2571A>C (p.Leu857=)
c.903A>C (p.Leu301=)
c.2517A>C (p.Leu839=)
c.2595A>C (p.Leu865=)
c.2346A>C (p.Leu782=)
c.2577A>C (p.Leu859=)
c.1503A>C (p.Leu501=)
n.2558A>C
1g.151406333A=CA2479570611POGZc.2750T= (p.Leu917=)
c.2543T= (p.Leu848=)
c.2702T= (p.Leu901=)
c.2723T= (p.Leu908=)
n.2850T=
c.2417T= (p.Leu806=)
c.2675T= (p.Leu892=)
c.2570T= (p.Leu857=)
c.902T= (p.Leu301=)
c.2516T= (p.Leu839=)
c.2594T= (p.Leu865=)
c.2345T= (p.Leu782=)
c.2576T= (p.Leu859=)
c.1502T= (p.Leu501=)
n.2557T=
1g.151406333A>CCA341949413POGZc.2750T>G (p.Leu917Arg)
c.2543T>G (p.Leu848Arg)
c.2702T>G (p.Leu901Arg)
c.2723T>G (p.Leu908Arg)
n.2850T>G
c.2417T>G (p.Leu806Arg)
c.2675T>G (p.Leu892Arg)
c.2570T>G (p.Leu857Arg)
c.902T>G (p.Leu301Arg)
c.2516T>G (p.Leu839Arg)
c.2594T>G (p.Leu865Arg)
c.2345T>G (p.Leu782Arg)
c.2576T>G (p.Leu859Arg)
c.1502T>G (p.Leu501Arg)
n.2557T>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406333A>GCA341949414POGZc.2750T>C (p.Leu917Pro)
c.2543T>C (p.Leu848Pro)
c.2702T>C (p.Leu901Pro)
c.2723T>C (p.Leu908Pro)
n.2850T>C
c.2417T>C (p.Leu806Pro)
c.2675T>C (p.Leu892Pro)
c.2570T>C (p.Leu857Pro)
c.902T>C (p.Leu301Pro)
c.2516T>C (p.Leu839Pro)
c.2594T>C (p.Leu865Pro)
c.2345T>C (p.Leu782Pro)
c.2576T>C (p.Leu859Pro)
c.1502T>C (p.Leu501Pro)
n.2557T>C
1g.151406333A>TCA341949415POGZc.2750T>A (p.Leu917Gln)
c.2543T>A (p.Leu848Gln)
c.2702T>A (p.Leu901Gln)
c.2723T>A (p.Leu908Gln)
n.2850T>A
c.2417T>A (p.Leu806Gln)
c.2675T>A (p.Leu892Gln)
c.2570T>A (p.Leu857Gln)
c.902T>A (p.Leu301Gln)
c.2516T>A (p.Leu839Gln)
c.2594T>A (p.Leu865Gln)
c.2345T>A (p.Leu782Gln)
c.2576T>A (p.Leu859Gln)
c.1502T>A (p.Leu501Gln)
n.2557T>A
1g.151406334G>ACA420910448POGZc.2749C>T (p.Leu917=)
c.2542C>T (p.Leu848=)
c.2701C>T (p.Leu901=)
c.2722C>T (p.Leu908=)
n.2849C>T
c.2416C>T (p.Leu806=)
c.2674C>T (p.Leu892=)
c.2569C>T (p.Leu857=)
c.901C>T (p.Leu301=)
c.2515C>T (p.Leu839=)
c.2593C>T (p.Leu865=)
c.2344C>T (p.Leu782=)
c.2575C>T (p.Leu859=)
c.1501C>T (p.Leu501=)
n.2556C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406334G>CCA341949416POGZc.2749C>G (p.Leu917Val)
c.2542C>G (p.Leu848Val)
c.2701C>G (p.Leu901Val)
c.2722C>G (p.Leu908Val)
n.2849C>G
c.2416C>G (p.Leu806Val)
c.2674C>G (p.Leu892Val)
c.2569C>G (p.Leu857Val)
c.901C>G (p.Leu301Val)
c.2515C>G (p.Leu839Val)
c.2593C>G (p.Leu865Val)
c.2344C>G (p.Leu782Val)
c.2575C>G (p.Leu859Val)
c.1501C>G (p.Leu501Val)
n.2556C>G
1g.151406334G=CA2479570612POGZc.2749C= (p.Leu917=)
c.2542C= (p.Leu848=)
c.2701C= (p.Leu901=)
c.2722C= (p.Leu908=)
n.2849C=
c.2416C= (p.Leu806=)
c.2674C= (p.Leu892=)
c.2569C= (p.Leu857=)
c.901C= (p.Leu301=)
c.2515C= (p.Leu839=)
c.2593C= (p.Leu865=)
c.2344C= (p.Leu782=)
c.2575C= (p.Leu859=)
c.1501C= (p.Leu501=)
n.2556C=
1g.151406334G>TCA341949417POGZc.2749C>A (p.Leu917Ile)
c.2542C>A (p.Leu848Ile)
c.2701C>A (p.Leu901Ile)
c.2722C>A (p.Leu908Ile)
n.2849C>A
c.2416C>A (p.Leu806Ile)
c.2674C>A (p.Leu892Ile)
c.2569C>A (p.Leu857Ile)
c.901C>A (p.Leu301Ile)
c.2515C>A (p.Leu839Ile)
c.2593C>A (p.Leu865Ile)
c.2344C>A (p.Leu782Ile)
c.2575C>A (p.Leu859Ile)
c.1501C>A (p.Leu501Ile)
n.2556C>A
1g.151406335T>ACA420910449POGZc.2748A>T (p.Leu916=)
c.2541A>T (p.Leu847=)
c.2700A>T (p.Leu900=)
c.2721A>T (p.Leu907=)
n.2848A>T
c.2415A>T (p.Leu805=)
c.2673A>T (p.Leu891=)
c.2568A>T (p.Leu856=)
c.900A>T (p.Leu300=)
c.2514A>T (p.Leu838=)
c.2592A>T (p.Leu864=)
c.2343A>T (p.Leu781=)
c.2574A>T (p.Leu858=)
c.1500A>T (p.Leu500=)
n.2555A>T
1g.151406335T>CCA29569405POGZc.2748A>G (p.Leu916=)
c.2541A>G (p.Leu847=)
c.2700A>G (p.Leu900=)
c.2721A>G (p.Leu907=)
n.2848A>G
c.2415A>G (p.Leu805=)
c.2673A>G (p.Leu891=)
c.2568A>G (p.Leu856=)
c.900A>G (p.Leu300=)
c.2514A>G (p.Leu838=)
c.2592A>G (p.Leu864=)
c.2343A>G (p.Leu781=)
c.2574A>G (p.Leu858=)
c.1500A>G (p.Leu500=)
n.2555A>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406335T>GCA420910450POGZc.2748A>C (p.Leu916=)
c.2541A>C (p.Leu847=)
c.2700A>C (p.Leu900=)
c.2721A>C (p.Leu907=)
n.2848A>C
c.2415A>C (p.Leu805=)
c.2673A>C (p.Leu891=)
c.2568A>C (p.Leu856=)
c.900A>C (p.Leu300=)
c.2514A>C (p.Leu838=)
c.2592A>C (p.Leu864=)
c.2343A>C (p.Leu781=)
c.2574A>C (p.Leu858=)
c.1500A>C (p.Leu500=)
n.2555A>C
1g.151406335T=CA2479570613POGZc.2748A= (p.Leu916=)
c.2541A= (p.Leu847=)
c.2700A= (p.Leu900=)
c.2721A= (p.Leu907=)
n.2848A=
c.2415A= (p.Leu805=)
c.2673A= (p.Leu891=)
c.2568A= (p.Leu856=)
c.900A= (p.Leu300=)
c.2514A= (p.Leu838=)
c.2592A= (p.Leu864=)
c.2343A= (p.Leu781=)
c.2574A= (p.Leu858=)
c.1500A= (p.Leu500=)
n.2555A=
1g.151406336A=CA2479570614POGZc.2747T= (p.Leu916=)
c.2540T= (p.Leu847=)
c.2699T= (p.Leu900=)
c.2720T= (p.Leu907=)
n.2847T=
c.2414T= (p.Leu805=)
c.2672T= (p.Leu891=)
c.2567T= (p.Leu856=)
c.899T= (p.Leu300=)
c.2513T= (p.Leu838=)
c.2591T= (p.Leu864=)
c.2342T= (p.Leu781=)
c.2573T= (p.Leu858=)
c.1499T= (p.Leu500=)
n.2554T=
1g.151406336A>CCA29569410POGZc.2747T>G (p.Leu916Arg)
c.2540T>G (p.Leu847Arg)
c.2699T>G (p.Leu900Arg)
c.2720T>G (p.Leu907Arg)
n.2847T>G
c.2414T>G (p.Leu805Arg)
c.2672T>G (p.Leu891Arg)
c.2567T>G (p.Leu856Arg)
c.899T>G (p.Leu300Arg)
c.2513T>G (p.Leu838Arg)
c.2591T>G (p.Leu864Arg)
c.2342T>G (p.Leu781Arg)
c.2573T>G (p.Leu858Arg)
c.1499T>G (p.Leu500Arg)
n.2554T>G
 ClinVar dbSNP
1g.151406336A>GCA341949424POGZc.2747T>C (p.Leu916Pro)
c.2540T>C (p.Leu847Pro)
c.2699T>C (p.Leu900Pro)
c.2720T>C (p.Leu907Pro)
n.2847T>C
c.2414T>C (p.Leu805Pro)
c.2672T>C (p.Leu891Pro)
c.2567T>C (p.Leu856Pro)
c.899T>C (p.Leu300Pro)
c.2513T>C (p.Leu838Pro)
c.2591T>C (p.Leu864Pro)
c.2342T>C (p.Leu781Pro)
c.2573T>C (p.Leu858Pro)
c.1499T>C (p.Leu500Pro)
n.2554T>C
1g.151406336A>TCA341949426POGZc.2747T>A (p.Leu916Gln)
c.2540T>A (p.Leu847Gln)
c.2699T>A (p.Leu900Gln)
c.2720T>A (p.Leu907Gln)
n.2847T>A
c.2414T>A (p.Leu805Gln)
c.2672T>A (p.Leu891Gln)
c.2567T>A (p.Leu856Gln)
c.899T>A (p.Leu300Gln)
c.2513T>A (p.Leu838Gln)
c.2591T>A (p.Leu864Gln)
c.2342T>A (p.Leu781Gln)
c.2573T>A (p.Leu858Gln)
c.1499T>A (p.Leu500Gln)
n.2554T>A
1g.151406337G>ACA420909627POGZc.2746C>T (p.Leu916=)
c.2539C>T (p.Leu847=)
c.2698C>T (p.Leu900=)
c.2719C>T (p.Leu907=)
n.2846C>T
c.2413C>T (p.Leu805=)
c.2671C>T (p.Leu891=)
c.2566C>T (p.Leu856=)
c.898C>T (p.Leu300=)
c.2512C>T (p.Leu838=)
c.2590C>T (p.Leu864=)
c.2341C>T (p.Leu781=)
c.2572C>T (p.Leu858=)
c.1498C>T (p.Leu500=)
n.2553C>T
1g.151406337G>CCA341949434POGZc.2746C>G (p.Leu916Val)
c.2539C>G (p.Leu847Val)
c.2698C>G (p.Leu900Val)
c.2719C>G (p.Leu907Val)
n.2846C>G
c.2413C>G (p.Leu805Val)
c.2671C>G (p.Leu891Val)
c.2566C>G (p.Leu856Val)
c.898C>G (p.Leu300Val)
c.2512C>G (p.Leu838Val)
c.2590C>G (p.Leu864Val)
c.2341C>G (p.Leu781Val)
c.2572C>G (p.Leu858Val)
c.1498C>G (p.Leu500Val)
n.2553C>G
 gnomAD v4
1g.151406337G>TCA341949431POGZc.2746C>A (p.Leu916Ile)
c.2539C>A (p.Leu847Ile)
c.2698C>A (p.Leu900Ile)
c.2719C>A (p.Leu907Ile)
n.2846C>A
c.2413C>A (p.Leu805Ile)
c.2671C>A (p.Leu891Ile)
c.2566C>A (p.Leu856Ile)
c.898C>A (p.Leu300Ile)
c.2512C>A (p.Leu838Ile)
c.2590C>A (p.Leu864Ile)
c.2341C>A (p.Leu781Ile)
c.2572C>A (p.Leu858Ile)
c.1498C>A (p.Leu500Ile)
n.2553C>A
1g.151406338C>ACA341949438POGZc.2745G>T (p.Glu915Asp)
c.2538G>T (p.Glu846Asp)
c.2697G>T (p.Glu899Asp)
c.2718G>T (p.Glu906Asp)
n.2845G>T
c.2412G>T (p.Glu804Asp)
c.2670G>T (p.Glu890Asp)
c.2565G>T (p.Glu855Asp)
c.897G>T (p.Glu299Asp)
c.2511G>T (p.Glu837Asp)
c.2589G>T (p.Glu863Asp)
c.2340G>T (p.Glu780Asp)
c.2571G>T (p.Glu857Asp)
c.1497G>T (p.Glu499Asp)
n.2552G>T
 gnomAD v4
1g.151406338C=CA2479570615POGZc.2745G= (p.Glu915=)
c.2538G= (p.Glu846=)
c.2697G= (p.Glu899=)
c.2718G= (p.Glu906=)
n.2845G=
c.2412G= (p.Glu804=)
c.2670G= (p.Glu890=)
c.2565G= (p.Glu855=)
c.897G= (p.Glu299=)
c.2511G= (p.Glu837=)
c.2589G= (p.Glu863=)
c.2340G= (p.Glu780=)
c.2571G= (p.Glu857=)
c.1497G= (p.Glu499=)
n.2552G=
1g.151406338C>GCA341949441POGZc.2745G>C (p.Glu915Asp)
c.2538G>C (p.Glu846Asp)
c.2697G>C (p.Glu899Asp)
c.2718G>C (p.Glu906Asp)
n.2845G>C
c.2412G>C (p.Glu804Asp)
c.2670G>C (p.Glu890Asp)
c.2565G>C (p.Glu855Asp)
c.897G>C (p.Glu299Asp)
c.2511G>C (p.Glu837Asp)
c.2589G>C (p.Glu863Asp)
c.2340G>C (p.Glu780Asp)
c.2571G>C (p.Glu857Asp)
c.1497G>C (p.Glu499Asp)
n.2552G>C
1g.151406338C>TCA420909628POGZc.2745G>A (p.Glu915=)
c.2538G>A (p.Glu846=)
c.2697G>A (p.Glu899=)
c.2718G>A (p.Glu906=)
n.2845G>A
c.2412G>A (p.Glu804=)
c.2670G>A (p.Glu890=)
c.2565G>A (p.Glu855=)
c.897G>A (p.Glu299=)
c.2511G>A (p.Glu837=)
c.2589G>A (p.Glu863=)
c.2340G>A (p.Glu780=)
c.2571G>A (p.Glu857=)
c.1497G>A (p.Glu499=)
n.2552G>A
 dbSNP
1g.151406339T>ACA341949445POGZc.2744A>T (p.Glu915Val)
c.2537A>T (p.Glu846Val)
c.2696A>T (p.Glu899Val)
c.2717A>T (p.Glu906Val)
n.2844A>T
c.2411A>T (p.Glu804Val)
c.2669A>T (p.Glu890Val)
c.2564A>T (p.Glu855Val)
c.896A>T (p.Glu299Val)
c.2510A>T (p.Glu837Val)
c.2588A>T (p.Glu863Val)
c.2339A>T (p.Glu780Val)
c.2570A>T (p.Glu857Val)
c.1496A>T (p.Glu499Val)
n.2551A>T
1g.151406339T>CCA341949448POGZc.2744A>G (p.Glu915Gly)
c.2537A>G (p.Glu846Gly)
c.2696A>G (p.Glu899Gly)
c.2717A>G (p.Glu906Gly)
n.2844A>G
c.2411A>G (p.Glu804Gly)
c.2669A>G (p.Glu890Gly)
c.2564A>G (p.Glu855Gly)
c.896A>G (p.Glu299Gly)
c.2510A>G (p.Glu837Gly)
c.2588A>G (p.Glu863Gly)
c.2339A>G (p.Glu780Gly)
c.2570A>G (p.Glu857Gly)
c.1496A>G (p.Glu499Gly)
n.2551A>G
1g.151406339T>GCA341949451POGZc.2744A>C (p.Glu915Ala)
c.2537A>C (p.Glu846Ala)
c.2696A>C (p.Glu899Ala)
c.2717A>C (p.Glu906Ala)
n.2844A>C
c.2411A>C (p.Glu804Ala)
c.2669A>C (p.Glu890Ala)
c.2564A>C (p.Glu855Ala)
c.896A>C (p.Glu299Ala)
c.2510A>C (p.Glu837Ala)
c.2588A>C (p.Glu863Ala)
c.2339A>C (p.Glu780Ala)
c.2570A>C (p.Glu857Ala)
c.1496A>C (p.Glu499Ala)
n.2551A>C
1g.151406340C>ACA341949455POGZc.2743G>T (p.Glu915Ter)
c.2536G>T (p.Glu846Ter)
c.2695G>T (p.Glu899Ter)
c.2716G>T (p.Glu906Ter)
n.2843G>T
c.2410G>T (p.Glu804Ter)
c.2668G>T (p.Glu890Ter)
c.2563G>T (p.Glu855Ter)
c.895G>T (p.Glu299Ter)
c.2509G>T (p.Glu837Ter)
c.2587G>T (p.Glu863Ter)
c.2338G>T (p.Glu780Ter)
c.2569G>T (p.Glu857Ter)
c.1495G>T (p.Glu499Ter)
n.2550G>T
1g.151406340C>GCA341949457POGZc.2743G>C (p.Glu915Gln)
c.2536G>C (p.Glu846Gln)
c.2695G>C (p.Glu899Gln)
c.2716G>C (p.Glu906Gln)
n.2843G>C
c.2410G>C (p.Glu804Gln)
c.2668G>C (p.Glu890Gln)
c.2563G>C (p.Glu855Gln)
c.895G>C (p.Glu299Gln)
c.2509G>C (p.Glu837Gln)
c.2587G>C (p.Glu863Gln)
c.2338G>C (p.Glu780Gln)
c.2569G>C (p.Glu857Gln)
c.1495G>C (p.Glu499Gln)
n.2550G>C
1g.151406340C>TCA341949461POGZc.2743G>A (p.Glu915Lys)
c.2536G>A (p.Glu846Lys)
c.2695G>A (p.Glu899Lys)
c.2716G>A (p.Glu906Lys)
n.2843G>A
c.2410G>A (p.Glu804Lys)
c.2668G>A (p.Glu890Lys)
c.2563G>A (p.Glu855Lys)
c.895G>A (p.Glu299Lys)
c.2509G>A (p.Glu837Lys)
c.2587G>A (p.Glu863Lys)
c.2338G>A (p.Glu780Lys)
c.2569G>A (p.Glu857Lys)
c.1495G>A (p.Glu499Lys)
n.2550G>A
1g.151406341T>ACA341949466POGZc.2742A>T (p.Glu914Asp)
c.2535A>T (p.Glu845Asp)
c.2694A>T (p.Glu898Asp)
c.2715A>T (p.Glu905Asp)
n.2842A>T
c.2409A>T (p.Glu803Asp)
c.2667A>T (p.Glu889Asp)
c.2562A>T (p.Glu854Asp)
c.894A>T (p.Glu298Asp)
c.2508A>T (p.Glu836Asp)
c.2586A>T (p.Glu862Asp)
c.2337A>T (p.Glu779Asp)
c.2568A>T (p.Glu856Asp)
c.1494A>T (p.Glu498Asp)
n.2549A>T
1g.151406341T>CCA420909632POGZc.2742A>G (p.Glu914=)
c.2535A>G (p.Glu845=)
c.2694A>G (p.Glu898=)
c.2715A>G (p.Glu905=)
n.2842A>G
c.2409A>G (p.Glu803=)
c.2667A>G (p.Glu889=)
c.2562A>G (p.Glu854=)
c.894A>G (p.Glu298=)
c.2508A>G (p.Glu836=)
c.2586A>G (p.Glu862=)
c.2337A>G (p.Glu779=)
c.2568A>G (p.Glu856=)
c.1494A>G (p.Glu498=)
n.2549A>G
 dbSNP gnomAD v2 gnomAD v4
1g.151406341T>GCA341949468POGZc.2742A>C (p.Glu914Asp)
c.2535A>C (p.Glu845Asp)
c.2694A>C (p.Glu898Asp)
c.2715A>C (p.Glu905Asp)
n.2842A>C
c.2409A>C (p.Glu803Asp)
c.2667A>C (p.Glu889Asp)
c.2562A>C (p.Glu854Asp)
c.894A>C (p.Glu298Asp)
c.2508A>C (p.Glu836Asp)
c.2586A>C (p.Glu862Asp)
c.2337A>C (p.Glu779Asp)
c.2568A>C (p.Glu856Asp)
c.1494A>C (p.Glu498Asp)
n.2549A>C
1g.151406341T=CA2479570616POGZc.2742A= (p.Glu914=)
c.2535A= (p.Glu845=)
c.2694A= (p.Glu898=)
c.2715A= (p.Glu905=)
n.2842A=
c.2409A= (p.Glu803=)
c.2667A= (p.Glu889=)
c.2562A= (p.Glu854=)
c.894A= (p.Glu298=)
c.2508A= (p.Glu836=)
c.2586A= (p.Glu862=)
c.2337A= (p.Glu779=)
c.2568A= (p.Glu856=)
c.1494A= (p.Glu498=)
n.2549A=
1g.151406342T>ACA341949472POGZc.2741A>T (p.Glu914Val)
c.2534A>T (p.Glu845Val)
c.2693A>T (p.Glu898Val)
c.2714A>T (p.Glu905Val)
n.2841A>T
c.2408A>T (p.Glu803Val)
c.2666A>T (p.Glu889Val)
c.2561A>T (p.Glu854Val)
c.893A>T (p.Glu298Val)
c.2507A>T (p.Glu836Val)
c.2585A>T (p.Glu862Val)
c.2336A>T (p.Glu779Val)
c.2567A>T (p.Glu856Val)
c.1493A>T (p.Glu498Val)
n.2548A>T
1g.151406342T>CCA341949475POGZc.2741A>G (p.Glu914Gly)
c.2534A>G (p.Glu845Gly)
c.2693A>G (p.Glu898Gly)
c.2714A>G (p.Glu905Gly)
n.2841A>G
c.2408A>G (p.Glu803Gly)
c.2666A>G (p.Glu889Gly)
c.2561A>G (p.Glu854Gly)
c.893A>G (p.Glu298Gly)
c.2507A>G (p.Glu836Gly)
c.2585A>G (p.Glu862Gly)
c.2336A>G (p.Glu779Gly)
c.2567A>G (p.Glu856Gly)
c.1493A>G (p.Glu498Gly)
n.2548A>G
1g.151406342T>GCA341949476POGZc.2741A>C (p.Glu914Ala)
c.2534A>C (p.Glu845Ala)
c.2693A>C (p.Glu898Ala)
c.2714A>C (p.Glu905Ala)
n.2841A>C
c.2408A>C (p.Glu803Ala)
c.2666A>C (p.Glu889Ala)
c.2561A>C (p.Glu854Ala)
c.893A>C (p.Glu298Ala)
c.2507A>C (p.Glu836Ala)
c.2585A>C (p.Glu862Ala)
c.2336A>C (p.Glu779Ala)
c.2567A>C (p.Glu856Ala)
c.1493A>C (p.Glu498Ala)
n.2548A>C
 dbSNP
1g.151406342T=CA2479570617POGZc.2741A= (p.Glu914=)
c.2534A= (p.Glu845=)
c.2693A= (p.Glu898=)
c.2714A= (p.Glu905=)
n.2841A=
c.2408A= (p.Glu803=)
c.2666A= (p.Glu889=)
c.2561A= (p.Glu854=)
c.893A= (p.Glu298=)
c.2507A= (p.Glu836=)
c.2585A= (p.Glu862=)
c.2336A= (p.Glu779=)
c.2567A= (p.Glu856=)
c.1493A= (p.Glu498=)
n.2548A=
1g.151406343C>ACA341949477POGZc.2740G>T (p.Glu914Ter)
c.2533G>T (p.Glu845Ter)
c.2692G>T (p.Glu898Ter)
c.2713G>T (p.Glu905Ter)
n.2840G>T
c.2407G>T (p.Glu803Ter)
c.2665G>T (p.Glu889Ter)
c.2560G>T (p.Glu854Ter)
c.892G>T (p.Glu298Ter)
c.2506G>T (p.Glu836Ter)
c.2584G>T (p.Glu862Ter)
c.2335G>T (p.Glu779Ter)
c.2566G>T (p.Glu856Ter)
c.1492G>T (p.Glu498Ter)
n.2547G>T
1g.151406343C=CA2479570618POGZc.2740G= (p.Glu914=)
c.2533G= (p.Glu845=)
c.2692G= (p.Glu898=)
c.2713G= (p.Glu905=)
n.2840G=
c.2407G= (p.Glu803=)
c.2665G= (p.Glu889=)
c.2560G= (p.Glu854=)
c.892G= (p.Glu298=)
c.2506G= (p.Glu836=)
c.2584G= (p.Glu862=)
c.2335G= (p.Glu779=)
c.2566G= (p.Glu856=)
c.1492G= (p.Glu498=)
n.2547G=
1g.151406343C>GCA341949483POGZc.2740G>C (p.Glu914Gln)
c.2533G>C (p.Glu845Gln)
c.2692G>C (p.Glu898Gln)
c.2713G>C (p.Glu905Gln)
n.2840G>C
c.2407G>C (p.Glu803Gln)
c.2665G>C (p.Glu889Gln)
c.2560G>C (p.Glu854Gln)
c.892G>C (p.Glu298Gln)
c.2506G>C (p.Glu836Gln)
c.2584G>C (p.Glu862Gln)
c.2335G>C (p.Glu779Gln)
c.2566G>C (p.Glu856Gln)
c.1492G>C (p.Glu498Gln)
n.2547G>C
1g.151406343C>TCA341949480POGZc.2740G>A (p.Glu914Lys)
c.2533G>A (p.Glu845Lys)
c.2692G>A (p.Glu898Lys)
c.2713G>A (p.Glu905Lys)
n.2840G>A
c.2407G>A (p.Glu803Lys)
c.2665G>A (p.Glu889Lys)
c.2560G>A (p.Glu854Lys)
c.892G>A (p.Glu298Lys)
c.2506G>A (p.Glu836Lys)
c.2584G>A (p.Glu862Lys)
c.2335G>A (p.Glu779Lys)
c.2566G>A (p.Glu856Lys)
c.1492G>A (p.Glu498Lys)
n.2547G>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406344A=CA2479570619POGZc.2739T= (p.Pro913=)
c.2532T= (p.Pro844=)
c.2691T= (p.Pro897=)
c.2712T= (p.Pro904=)
n.2839T=
c.2406T= (p.Pro802=)
c.2664T= (p.Pro888=)
c.2559T= (p.Pro853=)
c.891T= (p.Pro297=)
c.2505T= (p.Pro835=)
c.2583T= (p.Pro861=)
c.2334T= (p.Pro778=)
c.2565T= (p.Pro855=)
c.1491T= (p.Pro497=)
n.2546T=
1g.151406344A>CCA420909642POGZc.2739T>G (p.Pro913=)
c.2532T>G (p.Pro844=)
c.2691T>G (p.Pro897=)
c.2712T>G (p.Pro904=)
n.2839T>G
c.2406T>G (p.Pro802=)
c.2664T>G (p.Pro888=)
c.2559T>G (p.Pro853=)
c.891T>G (p.Pro297=)
c.2505T>G (p.Pro835=)
c.2583T>G (p.Pro861=)
c.2334T>G (p.Pro778=)
c.2565T>G (p.Pro855=)
c.1491T>G (p.Pro497=)
n.2546T>G
1g.151406344A>GCA420909640POGZc.2739T>C (p.Pro913=)
c.2532T>C (p.Pro844=)
c.2691T>C (p.Pro897=)
c.2712T>C (p.Pro904=)
n.2839T>C
c.2406T>C (p.Pro802=)
c.2664T>C (p.Pro888=)
c.2559T>C (p.Pro853=)
c.891T>C (p.Pro297=)
c.2505T>C (p.Pro835=)
c.2583T>C (p.Pro861=)
c.2334T>C (p.Pro778=)
c.2565T>C (p.Pro855=)
c.1491T>C (p.Pro497=)
n.2546T>C
 dbSNP gnomAD v4
1g.151406344A>TCA420909641POGZc.2739T>A (p.Pro913=)
c.2532T>A (p.Pro844=)
c.2691T>A (p.Pro897=)
c.2712T>A (p.Pro904=)
n.2839T>A
c.2406T>A (p.Pro802=)
c.2664T>A (p.Pro888=)
c.2559T>A (p.Pro853=)
c.891T>A (p.Pro297=)
c.2505T>A (p.Pro835=)
c.2583T>A (p.Pro861=)
c.2334T>A (p.Pro778=)
c.2565T>A (p.Pro855=)
c.1491T>A (p.Pro497=)
n.2546T>A
1g.151406345G>ACA341949486POGZc.2738C>T (p.Pro913Leu)
c.2531C>T (p.Pro844Leu)
c.2690C>T (p.Pro897Leu)
c.2711C>T (p.Pro904Leu)
n.2838C>T
c.2405C>T (p.Pro802Leu)
c.2663C>T (p.Pro888Leu)
c.2558C>T (p.Pro853Leu)
c.890C>T (p.Pro297Leu)
c.2504C>T (p.Pro835Leu)
c.2582C>T (p.Pro861Leu)
c.2333C>T (p.Pro778Leu)
c.2564C>T (p.Pro855Leu)
c.1490C>T (p.Pro497Leu)
n.2545C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406345G>CCA341949488POGZc.2738C>G (p.Pro913Arg)
c.2531C>G (p.Pro844Arg)
c.2690C>G (p.Pro897Arg)
c.2711C>G (p.Pro904Arg)
n.2838C>G
c.2405C>G (p.Pro802Arg)
c.2663C>G (p.Pro888Arg)
c.2558C>G (p.Pro853Arg)
c.890C>G (p.Pro297Arg)
c.2504C>G (p.Pro835Arg)
c.2582C>G (p.Pro861Arg)
c.2333C>G (p.Pro778Arg)
c.2564C>G (p.Pro855Arg)
c.1490C>G (p.Pro497Arg)
n.2545C>G
1g.151406345G=CA2479570620POGZc.2738C= (p.Pro913=)
c.2531C= (p.Pro844=)
c.2690C= (p.Pro897=)
c.2711C= (p.Pro904=)
n.2838C=
c.2405C= (p.Pro802=)
c.2663C= (p.Pro888=)
c.2558C= (p.Pro853=)
c.890C= (p.Pro297=)
c.2504C= (p.Pro835=)
c.2582C= (p.Pro861=)
c.2333C= (p.Pro778=)
c.2564C= (p.Pro855=)
c.1490C= (p.Pro497=)
n.2545C=
1g.151406345G>TCA341949491POGZc.2738C>A (p.Pro913His)
c.2531C>A (p.Pro844His)
c.2690C>A (p.Pro897His)
c.2711C>A (p.Pro904His)
n.2838C>A
c.2405C>A (p.Pro802His)
c.2663C>A (p.Pro888His)
c.2558C>A (p.Pro853His)
c.890C>A (p.Pro297His)
c.2504C>A (p.Pro835His)
c.2582C>A (p.Pro861His)
c.2333C>A (p.Pro778His)
c.2564C>A (p.Pro855His)
c.1490C>A (p.Pro497His)
n.2545C>A
1g.151406346G>ACA341949492POGZc.2737C>T (p.Pro913Ser)
c.2530C>T (p.Pro844Ser)
c.2689C>T (p.Pro897Ser)
c.2710C>T (p.Pro904Ser)
n.2837C>T
c.2404C>T (p.Pro802Ser)
c.2662C>T (p.Pro888Ser)
c.2557C>T (p.Pro853Ser)
c.889C>T (p.Pro297Ser)
c.2503C>T (p.Pro835Ser)
c.2581C>T (p.Pro861Ser)
c.2332C>T (p.Pro778Ser)
c.2563C>T (p.Pro855Ser)
c.1489C>T (p.Pro497Ser)
n.2544C>T
1g.151406346G>CCA341949493POGZc.2737C>G (p.Pro913Ala)
c.2530C>G (p.Pro844Ala)
c.2689C>G (p.Pro897Ala)
c.2710C>G (p.Pro904Ala)
n.2837C>G
c.2404C>G (p.Pro802Ala)
c.2662C>G (p.Pro888Ala)
c.2557C>G (p.Pro853Ala)
c.889C>G (p.Pro297Ala)
c.2503C>G (p.Pro835Ala)
c.2581C>G (p.Pro861Ala)
c.2332C>G (p.Pro778Ala)
c.2563C>G (p.Pro855Ala)
c.1489C>G (p.Pro497Ala)
n.2544C>G
1g.151406346G>TCA341949494POGZc.2737C>A (p.Pro913Thr)
c.2530C>A (p.Pro844Thr)
c.2689C>A (p.Pro897Thr)
c.2710C>A (p.Pro904Thr)
n.2837C>A
c.2404C>A (p.Pro802Thr)
c.2662C>A (p.Pro888Thr)
c.2557C>A (p.Pro853Thr)
c.889C>A (p.Pro297Thr)
c.2503C>A (p.Pro835Thr)
c.2581C>A (p.Pro861Thr)
c.2332C>A (p.Pro778Thr)
c.2563C>A (p.Pro855Thr)
c.1489C>A (p.Pro497Thr)
n.2544C>A
1g.151406347C>ACA1091080POGZc.2736G>T (p.Glu912Asp)
c.2529G>T (p.Glu843Asp)
c.2688G>T (p.Glu896Asp)
c.2709G>T (p.Glu903Asp)
n.2836G>T
c.2403G>T (p.Glu801Asp)
c.2661G>T (p.Glu887Asp)
c.2556G>T (p.Glu852Asp)
c.888G>T (p.Glu296Asp)
c.2502G>T (p.Glu834Asp)
c.2580G>T (p.Glu860Asp)
c.2331G>T (p.Glu777Asp)
c.2562G>T (p.Glu854Asp)
c.1488G>T (p.Glu496Asp)
n.2543G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406347C=CA1148900783POGZc.2736G= (p.Glu912=)
c.2529G= (p.Glu843=)
c.2688G= (p.Glu896=)
c.2709G= (p.Glu903=)
n.2836G=
c.2403G= (p.Glu801=)
c.2661G= (p.Glu887=)
c.2556G= (p.Glu852=)
c.888G= (p.Glu296=)
c.2502G= (p.Glu834=)
c.2580G= (p.Glu860=)
c.2331G= (p.Glu777=)
c.2562G= (p.Glu854=)
c.1488G= (p.Glu496=)
n.2543G=
1g.151406347C>GCA341949496POGZc.2736G>C (p.Glu912Asp)
c.2529G>C (p.Glu843Asp)
c.2688G>C (p.Glu896Asp)
c.2709G>C (p.Glu903Asp)
n.2836G>C
c.2403G>C (p.Glu801Asp)
c.2661G>C (p.Glu887Asp)
c.2556G>C (p.Glu852Asp)
c.888G>C (p.Glu296Asp)
c.2502G>C (p.Glu834Asp)
c.2580G>C (p.Glu860Asp)
c.2331G>C (p.Glu777Asp)
c.2562G>C (p.Glu854Asp)
c.1488G>C (p.Glu496Asp)
n.2543G>C
1g.151406347C>TCA420909649POGZc.2736G>A (p.Glu912=)
c.2529G>A (p.Glu843=)
c.2688G>A (p.Glu896=)
c.2709G>A (p.Glu903=)
n.2836G>A
c.2403G>A (p.Glu801=)
c.2661G>A (p.Glu887=)
c.2556G>A (p.Glu852=)
c.888G>A (p.Glu296=)
c.2502G>A (p.Glu834=)
c.2580G>A (p.Glu860=)
c.2331G>A (p.Glu777=)
c.2562G>A (p.Glu854=)
c.1488G>A (p.Glu496=)
n.2543G>A
1g.151406348T>ACA341949500POGZc.2735A>T (p.Glu912Val)
c.2528A>T (p.Glu843Val)
c.2687A>T (p.Glu896Val)
c.2708A>T (p.Glu903Val)
n.2835A>T
c.2402A>T (p.Glu801Val)
c.2660A>T (p.Glu887Val)
c.2555A>T (p.Glu852Val)
c.887A>T (p.Glu296Val)
c.2501A>T (p.Glu834Val)
c.2579A>T (p.Glu860Val)
c.2330A>T (p.Glu777Val)
c.2561A>T (p.Glu854Val)
c.1487A>T (p.Glu496Val)
n.2542A>T
1g.151406348T>CCA341949502POGZc.2735A>G (p.Glu912Gly)
c.2528A>G (p.Glu843Gly)
c.2687A>G (p.Glu896Gly)
c.2708A>G (p.Glu903Gly)
n.2835A>G
c.2402A>G (p.Glu801Gly)
c.2660A>G (p.Glu887Gly)
c.2555A>G (p.Glu852Gly)
c.887A>G (p.Glu296Gly)
c.2501A>G (p.Glu834Gly)
c.2579A>G (p.Glu860Gly)
c.2330A>G (p.Glu777Gly)
c.2561A>G (p.Glu854Gly)
c.1487A>G (p.Glu496Gly)
n.2542A>G
1g.151406348T>GCA341949504POGZc.2735A>C (p.Glu912Ala)
c.2528A>C (p.Glu843Ala)
c.2687A>C (p.Glu896Ala)
c.2708A>C (p.Glu903Ala)
n.2835A>C
c.2402A>C (p.Glu801Ala)
c.2660A>C (p.Glu887Ala)
c.2555A>C (p.Glu852Ala)
c.887A>C (p.Glu296Ala)
c.2501A>C (p.Glu834Ala)
c.2579A>C (p.Glu860Ala)
c.2330A>C (p.Glu777Ala)
c.2561A>C (p.Glu854Ala)
c.1487A>C (p.Glu496Ala)
n.2542A>C
1g.151406349C>ACA341949510POGZc.2734G>T (p.Glu912Ter)
c.2527G>T (p.Glu843Ter)
c.2686G>T (p.Glu896Ter)
c.2707G>T (p.Glu903Ter)
n.2834G>T
c.2401G>T (p.Glu801Ter)
c.2659G>T (p.Glu887Ter)
c.2554G>T (p.Glu852Ter)
c.886G>T (p.Glu296Ter)
c.2500G>T (p.Glu834Ter)
c.2578G>T (p.Glu860Ter)
c.2329G>T (p.Glu777Ter)
c.2560G>T (p.Glu854Ter)
c.1486G>T (p.Glu496Ter)
n.2541G>T
1g.151406349C=CA2479570621POGZc.2734G= (p.Glu912=)
c.2527G= (p.Glu843=)
c.2686G= (p.Glu896=)
c.2707G= (p.Glu903=)
n.2834G=
c.2401G= (p.Glu801=)
c.2659G= (p.Glu887=)
c.2554G= (p.Glu852=)
c.886G= (p.Glu296=)
c.2500G= (p.Glu834=)
c.2578G= (p.Glu860=)
c.2329G= (p.Glu777=)
c.2560G= (p.Glu854=)
c.1486G= (p.Glu496=)
n.2541G=
1g.151406349C>GCA341949508POGZc.2734G>C (p.Glu912Gln)
c.2527G>C (p.Glu843Gln)
c.2686G>C (p.Glu896Gln)
c.2707G>C (p.Glu903Gln)
n.2834G>C
c.2401G>C (p.Glu801Gln)
c.2659G>C (p.Glu887Gln)
c.2554G>C (p.Glu852Gln)
c.886G>C (p.Glu296Gln)
c.2500G>C (p.Glu834Gln)
c.2578G>C (p.Glu860Gln)
c.2329G>C (p.Glu777Gln)
c.2560G>C (p.Glu854Gln)
c.1486G>C (p.Glu496Gln)
n.2541G>C
 dbSNP
1g.151406349C>TCA341949507POGZc.2734G>A (p.Glu912Lys)
c.2527G>A (p.Glu843Lys)
c.2686G>A (p.Glu896Lys)
c.2707G>A (p.Glu903Lys)
n.2834G>A
c.2401G>A (p.Glu801Lys)
c.2659G>A (p.Glu887Lys)
c.2554G>A (p.Glu852Lys)
c.886G>A (p.Glu296Lys)
c.2500G>A (p.Glu834Lys)
c.2578G>A (p.Glu860Lys)
c.2329G>A (p.Glu777Lys)
c.2560G>A (p.Glu854Lys)
c.1486G>A (p.Glu496Lys)
n.2541G>A
 dbSNP
1g.151406350A>CCA420909652POGZc.2733T>G (p.Ala911=)
c.2526T>G (p.Ala842=)
c.2685T>G (p.Ala895=)
c.2706T>G (p.Ala902=)
n.2833T>G
c.2400T>G (p.Ala800=)
c.2658T>G (p.Ala886=)
c.2553T>G (p.Ala851=)
c.885T>G (p.Ala295=)
c.2499T>G (p.Ala833=)
c.2577T>G (p.Ala859=)
c.2328T>G (p.Ala776=)
c.2559T>G (p.Ala853=)
c.1485T>G (p.Ala495=)
n.2540T>G
1g.151406350A>GCA420909653POGZc.2733T>C (p.Ala911=)
c.2526T>C (p.Ala842=)
c.2685T>C (p.Ala895=)
c.2706T>C (p.Ala902=)
n.2833T>C
c.2400T>C (p.Ala800=)
c.2658T>C (p.Ala886=)
c.2553T>C (p.Ala851=)
c.885T>C (p.Ala295=)
c.2499T>C (p.Ala833=)
c.2577T>C (p.Ala859=)
c.2328T>C (p.Ala776=)
c.2559T>C (p.Ala853=)
c.1485T>C (p.Ala495=)
n.2540T>C
1g.151406350A>TCA420909655POGZc.2733T>A (p.Ala911=)
c.2526T>A (p.Ala842=)
c.2685T>A (p.Ala895=)
c.2706T>A (p.Ala902=)
n.2833T>A
c.2400T>A (p.Ala800=)
c.2658T>A (p.Ala886=)
c.2553T>A (p.Ala851=)
c.885T>A (p.Ala295=)
c.2499T>A (p.Ala833=)
c.2577T>A (p.Ala859=)
c.2328T>A (p.Ala776=)
c.2559T>A (p.Ala853=)
c.1485T>A (p.Ala495=)
n.2540T>A
1g.151406351G>ACA341949514POGZc.2732C>T (p.Ala911Val)
c.2525C>T (p.Ala842Val)
c.2684C>T (p.Ala895Val)
c.2705C>T (p.Ala902Val)
n.2832C>T
c.2399C>T (p.Ala800Val)
c.2657C>T (p.Ala886Val)
c.2552C>T (p.Ala851Val)
c.884C>T (p.Ala295Val)
c.2498C>T (p.Ala833Val)
c.2576C>T (p.Ala859Val)
c.2327C>T (p.Ala776Val)
c.2558C>T (p.Ala853Val)
c.1484C>T (p.Ala495Val)
n.2539C>T
1g.151406351G>CCA341949518POGZc.2732C>G (p.Ala911Gly)
c.2525C>G (p.Ala842Gly)
c.2684C>G (p.Ala895Gly)
c.2705C>G (p.Ala902Gly)
n.2832C>G
c.2399C>G (p.Ala800Gly)
c.2657C>G (p.Ala886Gly)
c.2552C>G (p.Ala851Gly)
c.884C>G (p.Ala295Gly)
c.2498C>G (p.Ala833Gly)
c.2576C>G (p.Ala859Gly)
c.2327C>G (p.Ala776Gly)
c.2558C>G (p.Ala853Gly)
c.1484C>G (p.Ala495Gly)
n.2539C>G
1g.151406351G>TCA341949521POGZc.2732C>A (p.Ala911Asp)
c.2525C>A (p.Ala842Asp)
c.2684C>A (p.Ala895Asp)
c.2705C>A (p.Ala902Asp)
n.2832C>A
c.2399C>A (p.Ala800Asp)
c.2657C>A (p.Ala886Asp)
c.2552C>A (p.Ala851Asp)
c.884C>A (p.Ala295Asp)
c.2498C>A (p.Ala833Asp)
c.2576C>A (p.Ala859Asp)
c.2327C>A (p.Ala776Asp)
c.2558C>A (p.Ala853Asp)
c.1484C>A (p.Ala495Asp)
n.2539C>A
1g.151406352C>ACA341949525POGZc.2731G>T (p.Ala911Ser)
c.2524G>T (p.Ala842Ser)
c.2683G>T (p.Ala895Ser)
c.2704G>T (p.Ala902Ser)
n.2831G>T
c.2398G>T (p.Ala800Ser)
c.2656G>T (p.Ala886Ser)
c.2551G>T (p.Ala851Ser)
c.883G>T (p.Ala295Ser)
c.2497G>T (p.Ala833Ser)
c.2575G>T (p.Ala859Ser)
c.2326G>T (p.Ala776Ser)
c.2557G>T (p.Ala853Ser)
c.1483G>T (p.Ala495Ser)
n.2538G>T
 gnomAD v4
1g.151406352C=CA2479570622POGZc.2731G= (p.Ala911=)
c.2524G= (p.Ala842=)
c.2683G= (p.Ala895=)
c.2704G= (p.Ala902=)
n.2831G=
c.2398G= (p.Ala800=)
c.2656G= (p.Ala886=)
c.2551G= (p.Ala851=)
c.883G= (p.Ala295=)
c.2497G= (p.Ala833=)
c.2575G= (p.Ala859=)
c.2326G= (p.Ala776=)
c.2557G= (p.Ala853=)
c.1483G= (p.Ala495=)
n.2538G=
1g.151406352C>GCA341949529POGZc.2731G>C (p.Ala911Pro)
c.2524G>C (p.Ala842Pro)
c.2683G>C (p.Ala895Pro)
c.2704G>C (p.Ala902Pro)
n.2831G>C
c.2398G>C (p.Ala800Pro)
c.2656G>C (p.Ala886Pro)
c.2551G>C (p.Ala851Pro)
c.883G>C (p.Ala295Pro)
c.2497G>C (p.Ala833Pro)
c.2575G>C (p.Ala859Pro)
c.2326G>C (p.Ala776Pro)
c.2557G>C (p.Ala853Pro)
c.1483G>C (p.Ala495Pro)
n.2538G>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406352C>TCA341949531POGZc.2731G>A (p.Ala911Thr)
c.2524G>A (p.Ala842Thr)
c.2683G>A (p.Ala895Thr)
c.2704G>A (p.Ala902Thr)
n.2831G>A
c.2398G>A (p.Ala800Thr)
c.2656G>A (p.Ala886Thr)
c.2551G>A (p.Ala851Thr)
c.883G>A (p.Ala295Thr)
c.2497G>A (p.Ala833Thr)
c.2575G>A (p.Ala859Thr)
c.2326G>A (p.Ala776Thr)
c.2557G>A (p.Ala853Thr)
c.1483G>A (p.Ala495Thr)
n.2538G>A
 gnomAD v4
1g.151406353T>ACA420909661POGZc.2730A>T (p.Pro910=)
c.2523A>T (p.Pro841=)
c.2682A>T (p.Pro894=)
c.2703A>T (p.Pro901=)
n.2830A>T
c.2397A>T (p.Pro799=)
c.2655A>T (p.Pro885=)
c.2550A>T (p.Pro850=)
c.882A>T (p.Pro294=)
c.2496A>T (p.Pro832=)
c.2574A>T (p.Pro858=)
c.2325A>T (p.Pro775=)
c.2556A>T (p.Pro852=)
c.1482A>T (p.Pro494=)
n.2537A>T
1g.151406353T>CCA420909660POGZc.2730A>G (p.Pro910=)
c.2523A>G (p.Pro841=)
c.2682A>G (p.Pro894=)
c.2703A>G (p.Pro901=)
n.2830A>G
c.2397A>G (p.Pro799=)
c.2655A>G (p.Pro885=)
c.2550A>G (p.Pro850=)
c.882A>G (p.Pro294=)
c.2496A>G (p.Pro832=)
c.2574A>G (p.Pro858=)
c.2325A>G (p.Pro775=)
c.2556A>G (p.Pro852=)
c.1482A>G (p.Pro494=)
n.2537A>G
 dbSNP gnomAD v2
1g.151406353T>GCA420909658POGZc.2730A>C (p.Pro910=)
c.2523A>C (p.Pro841=)
c.2682A>C (p.Pro894=)
c.2703A>C (p.Pro901=)
n.2830A>C
c.2397A>C (p.Pro799=)
c.2655A>C (p.Pro885=)
c.2550A>C (p.Pro850=)
c.882A>C (p.Pro294=)
c.2496A>C (p.Pro832=)
c.2574A>C (p.Pro858=)
c.2325A>C (p.Pro775=)
c.2556A>C (p.Pro852=)
c.1482A>C (p.Pro494=)
n.2537A>C
1g.151406353T=CA2479570623POGZc.2730A= (p.Pro910=)
c.2523A= (p.Pro841=)
c.2682A= (p.Pro894=)
c.2703A= (p.Pro901=)
n.2830A=
c.2397A= (p.Pro799=)
c.2655A= (p.Pro885=)
c.2550A= (p.Pro850=)
c.882A= (p.Pro294=)
c.2496A= (p.Pro832=)
c.2574A= (p.Pro858=)
c.2325A= (p.Pro775=)
c.2556A= (p.Pro852=)
c.1482A= (p.Pro494=)
n.2537A=
1g.151406354G>ACA341949534POGZc.2729C>T (p.Pro910Leu)
c.2522C>T (p.Pro841Leu)
c.2681C>T (p.Pro894Leu)
c.2702C>T (p.Pro901Leu)
n.2829C>T
c.2396C>T (p.Pro799Leu)
c.2654C>T (p.Pro885Leu)
c.2549C>T (p.Pro850Leu)
c.881C>T (p.Pro294Leu)
c.2495C>T (p.Pro832Leu)
c.2573C>T (p.Pro858Leu)
c.2324C>T (p.Pro775Leu)
c.2555C>T (p.Pro852Leu)
c.1481C>T (p.Pro494Leu)
n.2536C>T
 dbSNP gnomAD v4
1g.151406354G>CCA341949537POGZc.2729C>G (p.Pro910Arg)
c.2522C>G (p.Pro841Arg)
c.2681C>G (p.Pro894Arg)
c.2702C>G (p.Pro901Arg)
n.2829C>G
c.2396C>G (p.Pro799Arg)
c.2654C>G (p.Pro885Arg)
c.2549C>G (p.Pro850Arg)
c.881C>G (p.Pro294Arg)
c.2495C>G (p.Pro832Arg)
c.2573C>G (p.Pro858Arg)
c.2324C>G (p.Pro775Arg)
c.2555C>G (p.Pro852Arg)
c.1481C>G (p.Pro494Arg)
n.2536C>G
1g.151406354G=CA2479570624POGZc.2729C= (p.Pro910=)
c.2522C= (p.Pro841=)
c.2681C= (p.Pro894=)
c.2702C= (p.Pro901=)
n.2829C=
c.2396C= (p.Pro799=)
c.2654C= (p.Pro885=)
c.2549C= (p.Pro850=)
c.881C= (p.Pro294=)
c.2495C= (p.Pro832=)
c.2573C= (p.Pro858=)
c.2324C= (p.Pro775=)
c.2555C= (p.Pro852=)
c.1481C= (p.Pro494=)
n.2536C=
1g.151406354G>TCA341949540POGZc.2729C>A (p.Pro910Gln)
c.2522C>A (p.Pro841Gln)
c.2681C>A (p.Pro894Gln)
c.2702C>A (p.Pro901Gln)
n.2829C>A
c.2396C>A (p.Pro799Gln)
c.2654C>A (p.Pro885Gln)
c.2549C>A (p.Pro850Gln)
c.881C>A (p.Pro294Gln)
c.2495C>A (p.Pro832Gln)
c.2573C>A (p.Pro858Gln)
c.2324C>A (p.Pro775Gln)
c.2555C>A (p.Pro852Gln)
c.1481C>A (p.Pro494Gln)
n.2536C>A
1g.151406357delCA2647920376POGZc.2729del (p.Pro910GlnfsTer8)
c.2522del (p.Pro841GlnfsTer8)
c.2681del (p.Pro894GlnfsTer8)
c.2702del (p.Pro901GlnfsTer8)
n.2829del
c.2396del (p.Pro799GlnfsTer8)
c.2654del (p.Pro885GlnfsTer8)
c.2549del (p.Pro850GlnfsTer8)
c.881del (p.Pro294GlnfsTer8)
c.2495del (p.Pro832GlnfsTer8)
c.2573del (p.Pro858GlnfsTer8)
c.2324del (p.Pro775GlnfsTer8)
c.2555del (p.Pro852GlnfsTer8)
c.1481del (p.Pro494GlnfsTer8)
n.2536del
 gnomAD v4
1g.151406355G>ACA341949542POGZc.2728C>T (p.Pro910Ser)
c.2521C>T (p.Pro841Ser)
c.2680C>T (p.Pro894Ser)
c.2701C>T (p.Pro901Ser)
n.2828C>T
c.2395C>T (p.Pro799Ser)
c.2653C>T (p.Pro885Ser)
c.2548C>T (p.Pro850Ser)
c.880C>T (p.Pro294Ser)
c.2494C>T (p.Pro832Ser)
c.2572C>T (p.Pro858Ser)
c.2323C>T (p.Pro775Ser)
c.2554C>T (p.Pro852Ser)
c.1480C>T (p.Pro494Ser)
n.2535C>T
1g.151406355G>CCA341949544POGZc.2728C>G (p.Pro910Ala)
c.2521C>G (p.Pro841Ala)
c.2680C>G (p.Pro894Ala)
c.2701C>G (p.Pro901Ala)
n.2828C>G
c.2395C>G (p.Pro799Ala)
c.2653C>G (p.Pro885Ala)
c.2548C>G (p.Pro850Ala)
c.880C>G (p.Pro294Ala)
c.2494C>G (p.Pro832Ala)
c.2572C>G (p.Pro858Ala)
c.2323C>G (p.Pro775Ala)
c.2554C>G (p.Pro852Ala)
c.1480C>G (p.Pro494Ala)
n.2535C>G
1g.151406355G>TCA341949546POGZc.2728C>A (p.Pro910Thr)
c.2521C>A (p.Pro841Thr)
c.2680C>A (p.Pro894Thr)
c.2701C>A (p.Pro901Thr)
n.2828C>A
c.2395C>A (p.Pro799Thr)
c.2653C>A (p.Pro885Thr)
c.2548C>A (p.Pro850Thr)
c.880C>A (p.Pro294Thr)
c.2494C>A (p.Pro832Thr)
c.2572C>A (p.Pro858Thr)
c.2323C>A (p.Pro775Thr)
c.2554C>A (p.Pro852Thr)
c.1480C>A (p.Pro494Thr)
n.2535C>A
 gnomAD v4
1g.151406356G>ACA420909669POGZc.2727C>T (p.Thr909=)
c.2520C>T (p.Thr840=)
c.2679C>T (p.Thr893=)
c.2700C>T (p.Thr900=)
n.2827C>T
c.2394C>T (p.Thr798=)
c.2652C>T (p.Thr884=)
c.2547C>T (p.Thr849=)
c.879C>T (p.Thr293=)
c.2493C>T (p.Thr831=)
c.2571C>T (p.Thr857=)
c.2322C>T (p.Thr774=)
c.2553C>T (p.Thr851=)
c.1479C>T (p.Thr493=)
n.2534C>T
1g.151406356G>CCA420909670POGZc.2727C>G (p.Thr909=)
c.2520C>G (p.Thr840=)
c.2679C>G (p.Thr893=)
c.2700C>G (p.Thr900=)
n.2827C>G
c.2394C>G (p.Thr798=)
c.2652C>G (p.Thr884=)
c.2547C>G (p.Thr849=)
c.879C>G (p.Thr293=)
c.2493C>G (p.Thr831=)
c.2571C>G (p.Thr857=)
c.2322C>G (p.Thr774=)
c.2553C>G (p.Thr851=)
c.1479C>G (p.Thr493=)
n.2534C>G
 dbSNP gnomAD v4
1g.151406356G=CA2479570625POGZc.2727C= (p.Thr909=)
c.2520C= (p.Thr840=)
c.2679C= (p.Thr893=)
c.2700C= (p.Thr900=)
n.2827C=
c.2394C= (p.Thr798=)
c.2652C= (p.Thr884=)
c.2547C= (p.Thr849=)
c.879C= (p.Thr293=)
c.2493C= (p.Thr831=)
c.2571C= (p.Thr857=)
c.2322C= (p.Thr774=)
c.2553C= (p.Thr851=)
c.1479C= (p.Thr493=)
n.2534C=
1g.151406356G>TCA420909671POGZc.2727C>A (p.Thr909=)
c.2520C>A (p.Thr840=)
c.2679C>A (p.Thr893=)
c.2700C>A (p.Thr900=)
n.2827C>A
c.2394C>A (p.Thr798=)
c.2652C>A (p.Thr884=)
c.2547C>A (p.Thr849=)
c.879C>A (p.Thr293=)
c.2493C>A (p.Thr831=)
c.2571C>A (p.Thr857=)
c.2322C>A (p.Thr774=)
c.2553C>A (p.Thr851=)
c.1479C>A (p.Thr493=)
n.2534C>A
1g.151406357G>ACA1091081POGZc.2726C>T (p.Thr909Ile)
c.2519C>T (p.Thr840Ile)
c.2678C>T (p.Thr893Ile)
c.2699C>T (p.Thr900Ile)
n.2826C>T
c.2393C>T (p.Thr798Ile)
c.2651C>T (p.Thr884Ile)
c.2546C>T (p.Thr849Ile)
c.878C>T (p.Thr293Ile)
c.2492C>T (p.Thr831Ile)
c.2570C>T (p.Thr857Ile)
c.2321C>T (p.Thr774Ile)
c.2552C>T (p.Thr851Ile)
c.1478C>T (p.Thr493Ile)
n.2533C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406357G>CCA341949566POGZc.2726C>G (p.Thr909Ser)
c.2519C>G (p.Thr840Ser)
c.2678C>G (p.Thr893Ser)
c.2699C>G (p.Thr900Ser)
n.2826C>G
c.2393C>G (p.Thr798Ser)
c.2651C>G (p.Thr884Ser)
c.2546C>G (p.Thr849Ser)
c.878C>G (p.Thr293Ser)
c.2492C>G (p.Thr831Ser)
c.2570C>G (p.Thr857Ser)
c.2321C>G (p.Thr774Ser)
c.2552C>G (p.Thr851Ser)
c.1478C>G (p.Thr493Ser)
n.2533C>G
1g.151406357G=CA2479570626POGZc.2726C= (p.Thr909=)
c.2519C= (p.Thr840=)
c.2678C= (p.Thr893=)
c.2699C= (p.Thr900=)
n.2826C=
c.2393C= (p.Thr798=)
c.2651C= (p.Thr884=)
c.2546C= (p.Thr849=)
c.878C= (p.Thr293=)
c.2492C= (p.Thr831=)
c.2570C= (p.Thr857=)
c.2321C= (p.Thr774=)
c.2552C= (p.Thr851=)
c.1478C= (p.Thr493=)
n.2533C=
1g.151406357G>TCA341949548POGZc.2726C>A (p.Thr909Asn)
c.2519C>A (p.Thr840Asn)
c.2678C>A (p.Thr893Asn)
c.2699C>A (p.Thr900Asn)
n.2826C>A
c.2393C>A (p.Thr798Asn)
c.2651C>A (p.Thr884Asn)
c.2546C>A (p.Thr849Asn)
c.878C>A (p.Thr293Asn)
c.2492C>A (p.Thr831Asn)
c.2570C>A (p.Thr857Asn)
c.2321C>A (p.Thr774Asn)
c.2552C>A (p.Thr851Asn)
c.1478C>A (p.Thr493Asn)
n.2533C>A
1g.151406358T>ACA341949574POGZc.2725A>T (p.Thr909Ser)
c.2518A>T (p.Thr840Ser)
c.2677A>T (p.Thr893Ser)
c.2698A>T (p.Thr900Ser)
n.2825A>T
c.2392A>T (p.Thr798Ser)
c.2650A>T (p.Thr884Ser)
c.2545A>T (p.Thr849Ser)
c.877A>T (p.Thr293Ser)
c.2491A>T (p.Thr831Ser)
c.2569A>T (p.Thr857Ser)
c.2320A>T (p.Thr774Ser)
c.2551A>T (p.Thr851Ser)
c.1477A>T (p.Thr493Ser)
n.2532A>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406358T>CCA1091082POGZc.2725A>G (p.Thr909Ala)
c.2518A>G (p.Thr840Ala)
c.2677A>G (p.Thr893Ala)
c.2698A>G (p.Thr900Ala)
n.2825A>G
c.2392A>G (p.Thr798Ala)
c.2650A>G (p.Thr884Ala)
c.2545A>G (p.Thr849Ala)
c.877A>G (p.Thr293Ala)
c.2491A>G (p.Thr831Ala)
c.2569A>G (p.Thr857Ala)
c.2320A>G (p.Thr774Ala)
c.2551A>G (p.Thr851Ala)
c.1477A>G (p.Thr493Ala)
n.2532A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406358T>GCA341949571POGZc.2725A>C (p.Thr909Pro)
c.2518A>C (p.Thr840Pro)
c.2677A>C (p.Thr893Pro)
c.2698A>C (p.Thr900Pro)
n.2825A>C
c.2392A>C (p.Thr798Pro)
c.2650A>C (p.Thr884Pro)
c.2545A>C (p.Thr849Pro)
c.877A>C (p.Thr293Pro)
c.2491A>C (p.Thr831Pro)
c.2569A>C (p.Thr857Pro)
c.2320A>C (p.Thr774Pro)
c.2551A>C (p.Thr851Pro)
c.1477A>C (p.Thr493Pro)
n.2532A>C
 dbSNP
1g.151406358T=CA2479570627POGZc.2725A= (p.Thr909=)
c.2518A= (p.Thr840=)
c.2677A= (p.Thr893=)
c.2698A= (p.Thr900=)
n.2825A=
c.2392A= (p.Thr798=)
c.2650A= (p.Thr884=)
c.2545A= (p.Thr849=)
c.877A= (p.Thr293=)
c.2491A= (p.Thr831=)
c.2569A= (p.Thr857=)
c.2320A= (p.Thr774=)
c.2551A= (p.Thr851=)
c.1477A= (p.Thr493=)
n.2532A=
1g.151406359G>ACA420909674POGZc.2724C>T (p.Ala908=)
c.2517C>T (p.Ala839=)
c.2676C>T (p.Ala892=)
c.2697C>T (p.Ala899=)
n.2824C>T
c.2391C>T (p.Ala797=)
c.2649C>T (p.Ala883=)
c.2544C>T (p.Ala848=)
c.876C>T (p.Ala292=)
c.2490C>T (p.Ala830=)
c.2568C>T (p.Ala856=)
c.2319C>T (p.Ala773=)
c.2550C>T (p.Ala850=)
c.1476C>T (p.Ala492=)
n.2531C>T
1g.151406359G>CCA420909676POGZc.2724C>G (p.Ala908=)
c.2517C>G (p.Ala839=)
c.2676C>G (p.Ala892=)
c.2697C>G (p.Ala899=)
n.2824C>G
c.2391C>G (p.Ala797=)
c.2649C>G (p.Ala883=)
c.2544C>G (p.Ala848=)
c.876C>G (p.Ala292=)
c.2490C>G (p.Ala830=)
c.2568C>G (p.Ala856=)
c.2319C>G (p.Ala773=)
c.2550C>G (p.Ala850=)
c.1476C>G (p.Ala492=)
n.2531C>G
1g.151406359G>TCA420909682POGZc.2724C>A (p.Ala908=)
c.2517C>A (p.Ala839=)
c.2676C>A (p.Ala892=)
c.2697C>A (p.Ala899=)
n.2824C>A
c.2391C>A (p.Ala797=)
c.2649C>A (p.Ala883=)
c.2544C>A (p.Ala848=)
c.876C>A (p.Ala292=)
c.2490C>A (p.Ala830=)
c.2568C>A (p.Ala856=)
c.2319C>A (p.Ala773=)
c.2550C>A (p.Ala850=)
c.1476C>A (p.Ala492=)
n.2531C>A
 gnomAD v4
1g.151406360G>ACA341949576POGZc.2723C>T (p.Ala908Val)
c.2516C>T (p.Ala839Val)
c.2675C>T (p.Ala892Val)
c.2696C>T (p.Ala899Val)
n.2823C>T
c.2390C>T (p.Ala797Val)
c.2648C>T (p.Ala883Val)
c.2543C>T (p.Ala848Val)
c.875C>T (p.Ala292Val)
c.2489C>T (p.Ala830Val)
c.2567C>T (p.Ala856Val)
c.2318C>T (p.Ala773Val)
c.2549C>T (p.Ala850Val)
c.1475C>T (p.Ala492Val)
n.2530C>T
 dbSNP gnomAD v4 COSMIC
1g.151406360G>CCA341949579POGZc.2723C>G (p.Ala908Gly)
c.2516C>G (p.Ala839Gly)
c.2675C>G (p.Ala892Gly)
c.2696C>G (p.Ala899Gly)
n.2823C>G
c.2390C>G (p.Ala797Gly)
c.2648C>G (p.Ala883Gly)
c.2543C>G (p.Ala848Gly)
c.875C>G (p.Ala292Gly)
c.2489C>G (p.Ala830Gly)
c.2567C>G (p.Ala856Gly)
c.2318C>G (p.Ala773Gly)
c.2549C>G (p.Ala850Gly)
c.1475C>G (p.Ala492Gly)
n.2530C>G
 gnomAD v4
1g.151406360G=CA2479570628POGZc.2723C= (p.Ala908=)
c.2516C= (p.Ala839=)
c.2675C= (p.Ala892=)
c.2696C= (p.Ala899=)
n.2823C=
c.2390C= (p.Ala797=)
c.2648C= (p.Ala883=)
c.2543C= (p.Ala848=)
c.875C= (p.Ala292=)
c.2489C= (p.Ala830=)
c.2567C= (p.Ala856=)
c.2318C= (p.Ala773=)
c.2549C= (p.Ala850=)
c.1475C= (p.Ala492=)
n.2530C=
1g.151406360G>TCA341949580POGZc.2723C>A (p.Ala908Asp)
c.2516C>A (p.Ala839Asp)
c.2675C>A (p.Ala892Asp)
c.2696C>A (p.Ala899Asp)
n.2823C>A
c.2390C>A (p.Ala797Asp)
c.2648C>A (p.Ala883Asp)
c.2543C>A (p.Ala848Asp)
c.875C>A (p.Ala292Asp)
c.2489C>A (p.Ala830Asp)
c.2567C>A (p.Ala856Asp)
c.2318C>A (p.Ala773Asp)
c.2549C>A (p.Ala850Asp)
c.1475C>A (p.Ala492Asp)
n.2530C>A
 gnomAD v4
1g.151406361C>ACA341949583POGZc.2722G>T (p.Ala908Ser)
c.2515G>T (p.Ala839Ser)
c.2674G>T (p.Ala892Ser)
c.2695G>T (p.Ala899Ser)
n.2822G>T
c.2389G>T (p.Ala797Ser)
c.2647G>T (p.Ala883Ser)
c.2542G>T (p.Ala848Ser)
c.874G>T (p.Ala292Ser)
c.2488G>T (p.Ala830Ser)
c.2566G>T (p.Ala856Ser)
c.2317G>T (p.Ala773Ser)
c.2548G>T (p.Ala850Ser)
c.1474G>T (p.Ala492Ser)
n.2529G>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406361C=CA2479570629POGZc.2722G= (p.Ala908=)
c.2515G= (p.Ala839=)
c.2674G= (p.Ala892=)
c.2695G= (p.Ala899=)
n.2822G=
c.2389G= (p.Ala797=)
c.2647G= (p.Ala883=)
c.2542G= (p.Ala848=)
c.874G= (p.Ala292=)
c.2488G= (p.Ala830=)
c.2566G= (p.Ala856=)
c.2317G= (p.Ala773=)
c.2548G= (p.Ala850=)
c.1474G= (p.Ala492=)
n.2529G=
1g.151406361C>GCA341949585POGZc.2722G>C (p.Ala908Pro)
c.2515G>C (p.Ala839Pro)
c.2674G>C (p.Ala892Pro)
c.2695G>C (p.Ala899Pro)
n.2822G>C
c.2389G>C (p.Ala797Pro)
c.2647G>C (p.Ala883Pro)
c.2542G>C (p.Ala848Pro)
c.874G>C (p.Ala292Pro)
c.2488G>C (p.Ala830Pro)
c.2566G>C (p.Ala856Pro)
c.2317G>C (p.Ala773Pro)
c.2548G>C (p.Ala850Pro)
c.1474G>C (p.Ala492Pro)
n.2529G>C
 dbSNP gnomAD v4
1g.151406361C>TCA341949587POGZc.2722G>A (p.Ala908Thr)
c.2515G>A (p.Ala839Thr)
c.2674G>A (p.Ala892Thr)
c.2695G>A (p.Ala899Thr)
n.2822G>A
c.2389G>A (p.Ala797Thr)
c.2647G>A (p.Ala883Thr)
c.2542G>A (p.Ala848Thr)
c.874G>A (p.Ala292Thr)
c.2488G>A (p.Ala830Thr)
c.2566G>A (p.Ala856Thr)
c.2317G>A (p.Ala773Thr)
c.2548G>A (p.Ala850Thr)
c.1474G>A (p.Ala492Thr)
n.2529G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.151406365dupCA2739292034POGZc.2722dup (p.Ala908GlyfsTer5)
c.2515dup (p.Ala839GlyfsTer5)
c.2674dup (p.Ala892GlyfsTer5)
c.2695dup (p.Ala899GlyfsTer5)
n.2822dup
c.2389dup (p.Ala797GlyfsTer5)
c.2647dup (p.Ala883GlyfsTer5)
c.2542dup (p.Ala848GlyfsTer5)
c.874dup (p.Ala292GlyfsTer5)
c.2488dup (p.Ala830GlyfsTer5)
c.2566dup (p.Ala856GlyfsTer5)
c.2317dup (p.Ala773GlyfsTer5)
c.2548dup (p.Ala850GlyfsTer5)
c.1474dup (p.Ala492GlyfsTer5)
n.2529dup
1g.151406365delCA2647920377POGZc.2722del (p.Ala908ProfsTer10)
c.2515del (p.Ala839ProfsTer10)
c.2674del (p.Ala892ProfsTer10)
c.2695del (p.Ala899ProfsTer10)
n.2822del
c.2389del (p.Ala797ProfsTer10)
c.2647del (p.Ala883ProfsTer10)
c.2542del (p.Ala848ProfsTer10)
c.874del (p.Ala292ProfsTer10)
c.2488del (p.Ala830ProfsTer10)
c.2566del (p.Ala856ProfsTer10)
c.2317del (p.Ala773ProfsTer10)
c.2548del (p.Ala850ProfsTer10)
c.1474del (p.Ala492ProfsTer10)
n.2529del
 gnomAD v4
1g.151406362C>ACA420909687POGZc.2721G>T (p.Gly907=)
c.2514G>T (p.Gly838=)
c.2673G>T (p.Gly891=)
c.2694G>T (p.Gly898=)
n.2821G>T
c.2388G>T (p.Gly796=)
c.2646G>T (p.Gly882=)
c.2541G>T (p.Gly847=)
c.873G>T (p.Gly291=)
c.2487G>T (p.Gly829=)
c.2565G>T (p.Gly855=)
c.2316G>T (p.Gly772=)
c.2547G>T (p.Gly849=)
c.1473G>T (p.Gly491=)
n.2528G>T
 gnomAD v4
1g.151406362C=CA2479570630POGZc.2721G= (p.Gly907=)
c.2514G= (p.Gly838=)
c.2673G= (p.Gly891=)
c.2694G= (p.Gly898=)
n.2821G=
c.2388G= (p.Gly796=)
c.2646G= (p.Gly882=)
c.2541G= (p.Gly847=)
c.873G= (p.Gly291=)
c.2487G= (p.Gly829=)
c.2565G= (p.Gly855=)
c.2316G= (p.Gly772=)
c.2547G= (p.Gly849=)
c.1473G= (p.Gly491=)
n.2528G=
1g.151406362C>GCA420909689POGZc.2721G>C (p.Gly907=)
c.2514G>C (p.Gly838=)
c.2673G>C (p.Gly891=)
c.2694G>C (p.Gly898=)
n.2821G>C
c.2388G>C (p.Gly796=)
c.2646G>C (p.Gly882=)
c.2541G>C (p.Gly847=)
c.873G>C (p.Gly291=)
c.2487G>C (p.Gly829=)
c.2565G>C (p.Gly855=)
c.2316G>C (p.Gly772=)
c.2547G>C (p.Gly849=)
c.1473G>C (p.Gly491=)
n.2528G>C
1g.151406362C>TCA420909690POGZc.2721G>A (p.Gly907=)
c.2514G>A (p.Gly838=)
c.2673G>A (p.Gly891=)
c.2694G>A (p.Gly898=)
n.2821G>A
c.2388G>A (p.Gly796=)
c.2646G>A (p.Gly882=)
c.2541G>A (p.Gly847=)
c.873G>A (p.Gly291=)
c.2487G>A (p.Gly829=)
c.2565G>A (p.Gly855=)
c.2316G>A (p.Gly772=)
c.2547G>A (p.Gly849=)
c.1473G>A (p.Gly491=)
n.2528G>A
 dbSNP gnomAD v3 gnomAD v4
1g.151406363C>ACA341949589POGZc.2720G>T (p.Gly907Val)
c.2513G>T (p.Gly838Val)
c.2672G>T (p.Gly891Val)
c.2693G>T (p.Gly898Val)
n.2820G>T
c.2387G>T (p.Gly796Val)
c.2645G>T (p.Gly882Val)
c.2540G>T (p.Gly847Val)
c.872G>T (p.Gly291Val)
c.2486G>T (p.Gly829Val)
c.2564G>T (p.Gly855Val)
c.2315G>T (p.Gly772Val)
c.2546G>T (p.Gly849Val)
c.1472G>T (p.Gly491Val)
n.2527G>T
1g.151406363C=CA2479570631POGZc.2720G= (p.Gly907=)
c.2513G= (p.Gly838=)
c.2672G= (p.Gly891=)
c.2693G= (p.Gly898=)
n.2820G=
c.2387G= (p.Gly796=)
c.2645G= (p.Gly882=)
c.2540G= (p.Gly847=)
c.872G= (p.Gly291=)
c.2486G= (p.Gly829=)
c.2564G= (p.Gly855=)
c.2315G= (p.Gly772=)
c.2546G= (p.Gly849=)
c.1472G= (p.Gly491=)
n.2527G=
1g.151406363C>GCA341949590POGZc.2720G>C (p.Gly907Ala)
c.2513G>C (p.Gly838Ala)
c.2672G>C (p.Gly891Ala)
c.2693G>C (p.Gly898Ala)
n.2820G>C
c.2387G>C (p.Gly796Ala)
c.2645G>C (p.Gly882Ala)
c.2540G>C (p.Gly847Ala)
c.872G>C (p.Gly291Ala)
c.2486G>C (p.Gly829Ala)
c.2564G>C (p.Gly855Ala)
c.2315G>C (p.Gly772Ala)
c.2546G>C (p.Gly849Ala)
c.1472G>C (p.Gly491Ala)
n.2527G>C
1g.151406363C>TCA341949593POGZc.2720G>A (p.Gly907Glu)
c.2513G>A (p.Gly838Glu)
c.2672G>A (p.Gly891Glu)
c.2693G>A (p.Gly898Glu)
n.2820G>A
c.2387G>A (p.Gly796Glu)
c.2645G>A (p.Gly882Glu)
c.2540G>A (p.Gly847Glu)
c.872G>A (p.Gly291Glu)
c.2486G>A (p.Gly829Glu)
c.2564G>A (p.Gly855Glu)
c.2315G>A (p.Gly772Glu)
c.2546G>A (p.Gly849Glu)
c.1472G>A (p.Gly491Glu)
n.2527G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406364C>ACA341949599POGZc.2719G>T (p.Gly907Trp)
c.2512G>T (p.Gly838Trp)
c.2671G>T (p.Gly891Trp)
c.2692G>T (p.Gly898Trp)
n.2819G>T
c.2386G>T (p.Gly796Trp)
c.2644G>T (p.Gly882Trp)
c.2539G>T (p.Gly847Trp)
c.871G>T (p.Gly291Trp)
c.2485G>T (p.Gly829Trp)
c.2563G>T (p.Gly855Trp)
c.2314G>T (p.Gly772Trp)
c.2545G>T (p.Gly849Trp)
c.1471G>T (p.Gly491Trp)
n.2526G>T
1g.151406364C>GCA341949598POGZc.2719G>C (p.Gly907Arg)
c.2512G>C (p.Gly838Arg)
c.2671G>C (p.Gly891Arg)
c.2692G>C (p.Gly898Arg)
n.2819G>C
c.2386G>C (p.Gly796Arg)
c.2644G>C (p.Gly882Arg)
c.2539G>C (p.Gly847Arg)
c.871G>C (p.Gly291Arg)
c.2485G>C (p.Gly829Arg)
c.2563G>C (p.Gly855Arg)
c.2314G>C (p.Gly772Arg)
c.2545G>C (p.Gly849Arg)
c.1471G>C (p.Gly491Arg)
n.2526G>C
1g.151406364C>TCA341949596POGZc.2719G>A (p.Gly907Arg)
c.2512G>A (p.Gly838Arg)
c.2671G>A (p.Gly891Arg)
c.2692G>A (p.Gly898Arg)
n.2819G>A
c.2386G>A (p.Gly796Arg)
c.2644G>A (p.Gly882Arg)
c.2539G>A (p.Gly847Arg)
c.871G>A (p.Gly291Arg)
c.2485G>A (p.Gly829Arg)
c.2563G>A (p.Gly855Arg)
c.2314G>A (p.Gly772Arg)
c.2545G>A (p.Gly849Arg)
c.1471G>A (p.Gly491Arg)
n.2526G>A
 gnomAD v4
1g.151406365C>ACA420909698POGZc.2718G>T (p.Ala906=)
c.2511G>T (p.Ala837=)
c.2670G>T (p.Ala890=)
c.2691G>T (p.Ala897=)
n.2818G>T
c.2385G>T (p.Ala795=)
c.2643G>T (p.Ala881=)
c.2538G>T (p.Ala846=)
c.870G>T (p.Ala290=)
c.2484G>T (p.Ala828=)
c.2562G>T (p.Ala854=)
c.2313G>T (p.Ala771=)
c.2544G>T (p.Ala848=)
c.1470G>T (p.Ala490=)
n.2525G>T
 gnomAD v4
1g.151406365C=CA1141941340POGZc.2718G= (p.Ala906=)
c.2511G= (p.Ala837=)
c.2670G= (p.Ala890=)
c.2691G= (p.Ala897=)
n.2818G=
c.2385G= (p.Ala795=)
c.2643G= (p.Ala881=)
c.2538G= (p.Ala846=)
c.870G= (p.Ala290=)
c.2484G= (p.Ala828=)
c.2562G= (p.Ala854=)
c.2313G= (p.Ala771=)
c.2544G= (p.Ala848=)
c.1470G= (p.Ala490=)
n.2525G=
1g.151406365C>GCA420909699POGZc.2718G>C (p.Ala906=)
c.2511G>C (p.Ala837=)
c.2670G>C (p.Ala890=)
c.2691G>C (p.Ala897=)
n.2818G>C
c.2385G>C (p.Ala795=)
c.2643G>C (p.Ala881=)
c.2538G>C (p.Ala846=)
c.870G>C (p.Ala290=)
c.2484G>C (p.Ala828=)
c.2562G>C (p.Ala854=)
c.2313G>C (p.Ala771=)
c.2544G>C (p.Ala848=)
c.1470G>C (p.Ala490=)
n.2525G>C
1g.151406365C>TCA1091083POGZc.2718G>A (p.Ala906=)
c.2511G>A (p.Ala837=)
c.2670G>A (p.Ala890=)
c.2691G>A (p.Ala897=)
n.2818G>A
c.2385G>A (p.Ala795=)
c.2643G>A (p.Ala881=)
c.2538G>A (p.Ala846=)
c.870G>A (p.Ala290=)
c.2484G>A (p.Ala828=)
c.2562G>A (p.Ala854=)
c.2313G>A (p.Ala771=)
c.2544G>A (p.Ala848=)
c.1470G>A (p.Ala490=)
n.2525G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406366G>ACA1091084POGZc.2717C>T (p.Ala906Val)
c.2510C>T (p.Ala837Val)
c.2669C>T (p.Ala890Val)
c.2690C>T (p.Ala897Val)
n.2817C>T
c.2384C>T (p.Ala795Val)
c.2642C>T (p.Ala881Val)
c.2537C>T (p.Ala846Val)
c.869C>T (p.Ala290Val)
c.2483C>T (p.Ala828Val)
c.2561C>T (p.Ala854Val)
c.2312C>T (p.Ala771Val)
c.2543C>T (p.Ala848Val)
c.1469C>T (p.Ala490Val)
n.2524C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406366G>CCA341949605POGZc.2717C>G (p.Ala906Gly)
c.2510C>G (p.Ala837Gly)
c.2669C>G (p.Ala890Gly)
c.2690C>G (p.Ala897Gly)
n.2817C>G
c.2384C>G (p.Ala795Gly)
c.2642C>G (p.Ala881Gly)
c.2537C>G (p.Ala846Gly)
c.869C>G (p.Ala290Gly)
c.2483C>G (p.Ala828Gly)
c.2561C>G (p.Ala854Gly)
c.2312C>G (p.Ala771Gly)
c.2543C>G (p.Ala848Gly)
c.1469C>G (p.Ala490Gly)
n.2524C>G
1g.151406366G=CA1141793441POGZc.2717C= (p.Ala906=)
c.2510C= (p.Ala837=)
c.2669C= (p.Ala890=)
c.2690C= (p.Ala897=)
n.2817C=
c.2384C= (p.Ala795=)
c.2642C= (p.Ala881=)
c.2537C= (p.Ala846=)
c.869C= (p.Ala290=)
c.2483C= (p.Ala828=)
c.2561C= (p.Ala854=)
c.2312C= (p.Ala771=)
c.2543C= (p.Ala848=)
c.1469C= (p.Ala490=)
n.2524C=
1g.151406366G>TCA341949608POGZc.2717C>A (p.Ala906Glu)
c.2510C>A (p.Ala837Glu)
c.2669C>A (p.Ala890Glu)
c.2690C>A (p.Ala897Glu)
n.2817C>A
c.2384C>A (p.Ala795Glu)
c.2642C>A (p.Ala881Glu)
c.2537C>A (p.Ala846Glu)
c.869C>A (p.Ala290Glu)
c.2483C>A (p.Ala828Glu)
c.2561C>A (p.Ala854Glu)
c.2312C>A (p.Ala771Glu)
c.2543C>A (p.Ala848Glu)
c.1469C>A (p.Ala490Glu)
n.2524C>A
1g.151406367C>ACA341949612POGZc.2716G>T (p.Ala906Ser)
c.2509G>T (p.Ala837Ser)
c.2668G>T (p.Ala890Ser)
c.2689G>T (p.Ala897Ser)
n.2816G>T
c.2383G>T (p.Ala795Ser)
c.2641G>T (p.Ala881Ser)
c.2536G>T (p.Ala846Ser)
c.868G>T (p.Ala290Ser)
c.2482G>T (p.Ala828Ser)
c.2560G>T (p.Ala854Ser)
c.2311G>T (p.Ala771Ser)
c.2542G>T (p.Ala848Ser)
c.1468G>T (p.Ala490Ser)
n.2523G>T
 gnomAD v4
1g.151406367C=CA2479570632POGZc.2716G= (p.Ala906=)
c.2509G= (p.Ala837=)
c.2668G= (p.Ala890=)
c.2689G= (p.Ala897=)
n.2816G=
c.2383G= (p.Ala795=)
c.2641G= (p.Ala881=)
c.2536G= (p.Ala846=)
c.868G= (p.Ala290=)
c.2482G= (p.Ala828=)
c.2560G= (p.Ala854=)
c.2311G= (p.Ala771=)
c.2542G= (p.Ala848=)
c.1468G= (p.Ala490=)
n.2523G=
1g.151406367C>GCA341949614POGZc.2716G>C (p.Ala906Pro)
c.2509G>C (p.Ala837Pro)
c.2668G>C (p.Ala890Pro)
c.2689G>C (p.Ala897Pro)
n.2816G>C
c.2383G>C (p.Ala795Pro)
c.2641G>C (p.Ala881Pro)
c.2536G>C (p.Ala846Pro)
c.868G>C (p.Ala290Pro)
c.2482G>C (p.Ala828Pro)
c.2560G>C (p.Ala854Pro)
c.2311G>C (p.Ala771Pro)
c.2542G>C (p.Ala848Pro)
c.1468G>C (p.Ala490Pro)
n.2523G>C
1g.151406367C>TCA29569450POGZc.2716G>A (p.Ala906Thr)
c.2509G>A (p.Ala837Thr)
c.2668G>A (p.Ala890Thr)
c.2689G>A (p.Ala897Thr)
n.2816G>A
c.2383G>A (p.Ala795Thr)
c.2641G>A (p.Ala881Thr)
c.2536G>A (p.Ala846Thr)
c.868G>A (p.Ala290Thr)
c.2482G>A (p.Ala828Thr)
c.2560G>A (p.Ala854Thr)
c.2311G>A (p.Ala771Thr)
c.2542G>A (p.Ala848Thr)
c.1468G>A (p.Ala490Thr)
n.2523G>A
 dbSNP
1g.151406368A=CA2479570633POGZc.2715T= (p.Ser905=)
c.2508T= (p.Ser836=)
c.2667T= (p.Ser889=)
c.2688T= (p.Ser896=)
n.2815T=
c.2382T= (p.Ser794=)
c.2640T= (p.Ser880=)
c.2535T= (p.Ser845=)
c.867T= (p.Ser289=)
c.2481T= (p.Ser827=)
c.2559T= (p.Ser853=)
c.2310T= (p.Ser770=)
c.2541T= (p.Ser847=)
c.1467T= (p.Ser489=)
n.2522T=
1g.151406368A>CCA420909707POGZc.2715T>G (p.Ser905=)
c.2508T>G (p.Ser836=)
c.2667T>G (p.Ser889=)
c.2688T>G (p.Ser896=)
n.2815T>G
c.2382T>G (p.Ser794=)
c.2640T>G (p.Ser880=)
c.2535T>G (p.Ser845=)
c.867T>G (p.Ser289=)
c.2481T>G (p.Ser827=)
c.2559T>G (p.Ser853=)
c.2310T>G (p.Ser770=)
c.2541T>G (p.Ser847=)
c.1467T>G (p.Ser489=)
n.2522T>G
1g.151406368A>GCA29569454POGZc.2715T>C (p.Ser905=)
c.2508T>C (p.Ser836=)
c.2667T>C (p.Ser889=)
c.2688T>C (p.Ser896=)
n.2815T>C
c.2382T>C (p.Ser794=)
c.2640T>C (p.Ser880=)
c.2535T>C (p.Ser845=)
c.867T>C (p.Ser289=)
c.2481T>C (p.Ser827=)
c.2559T>C (p.Ser853=)
c.2310T>C (p.Ser770=)
c.2541T>C (p.Ser847=)
c.1467T>C (p.Ser489=)
n.2522T>C
 dbSNP
1g.151406368A>TCA420909708POGZc.2715T>A (p.Ser905=)
c.2508T>A (p.Ser836=)
c.2667T>A (p.Ser889=)
c.2688T>A (p.Ser896=)
n.2815T>A
c.2382T>A (p.Ser794=)
c.2640T>A (p.Ser880=)
c.2535T>A (p.Ser845=)
c.867T>A (p.Ser289=)
c.2481T>A (p.Ser827=)
c.2559T>A (p.Ser853=)
c.2310T>A (p.Ser770=)
c.2541T>A (p.Ser847=)
c.1467T>A (p.Ser489=)
n.2522T>A
1g.151406369G>ACA341949617POGZc.2714C>T (p.Ser905Phe)
c.2507C>T (p.Ser836Phe)
c.2666C>T (p.Ser889Phe)
c.2687C>T (p.Ser896Phe)
n.2814C>T
c.2381C>T (p.Ser794Phe)
c.2639C>T (p.Ser880Phe)
c.2534C>T (p.Ser845Phe)
c.866C>T (p.Ser289Phe)
c.2480C>T (p.Ser827Phe)
c.2558C>T (p.Ser853Phe)
c.2309C>T (p.Ser770Phe)
c.2540C>T (p.Ser847Phe)
c.1466C>T (p.Ser489Phe)
n.2521C>T
 COSMIC COSMIC
1g.151406369G>CCA341949619POGZc.2714C>G (p.Ser905Cys)
c.2507C>G (p.Ser836Cys)
c.2666C>G (p.Ser889Cys)
c.2687C>G (p.Ser896Cys)
n.2814C>G
c.2381C>G (p.Ser794Cys)
c.2639C>G (p.Ser880Cys)
c.2534C>G (p.Ser845Cys)
c.866C>G (p.Ser289Cys)
c.2480C>G (p.Ser827Cys)
c.2558C>G (p.Ser853Cys)
c.2309C>G (p.Ser770Cys)
c.2540C>G (p.Ser847Cys)
c.1466C>G (p.Ser489Cys)
n.2521C>G
1g.151406369G>TCA341949621POGZc.2714C>A (p.Ser905Tyr)
c.2507C>A (p.Ser836Tyr)
c.2666C>A (p.Ser889Tyr)
c.2687C>A (p.Ser896Tyr)
n.2814C>A
c.2381C>A (p.Ser794Tyr)
c.2639C>A (p.Ser880Tyr)
c.2534C>A (p.Ser845Tyr)
c.866C>A (p.Ser289Tyr)
c.2480C>A (p.Ser827Tyr)
c.2558C>A (p.Ser853Tyr)
c.2309C>A (p.Ser770Tyr)
c.2540C>A (p.Ser847Tyr)
c.1466C>A (p.Ser489Tyr)
n.2521C>A
1g.151406370A>CCA341949622POGZc.2713T>G (p.Ser905Ala)
c.2506T>G (p.Ser836Ala)
c.2665T>G (p.Ser889Ala)
c.2686T>G (p.Ser896Ala)
n.2813T>G
c.2380T>G (p.Ser794Ala)
c.2638T>G (p.Ser880Ala)
c.2533T>G (p.Ser845Ala)
c.865T>G (p.Ser289Ala)
c.2479T>G (p.Ser827Ala)
c.2557T>G (p.Ser853Ala)
c.2308T>G (p.Ser770Ala)
c.2539T>G (p.Ser847Ala)
c.1465T>G (p.Ser489Ala)
n.2520T>G
1g.151406370A>GCA341949624POGZc.2713T>C (p.Ser905Pro)
c.2506T>C (p.Ser836Pro)
c.2665T>C (p.Ser889Pro)
c.2686T>C (p.Ser896Pro)
n.2813T>C
c.2380T>C (p.Ser794Pro)
c.2638T>C (p.Ser880Pro)
c.2533T>C (p.Ser845Pro)
c.865T>C (p.Ser289Pro)
c.2479T>C (p.Ser827Pro)
c.2557T>C (p.Ser853Pro)
c.2308T>C (p.Ser770Pro)
c.2539T>C (p.Ser847Pro)
c.1465T>C (p.Ser489Pro)
n.2520T>C
1g.151406370A>TCA341949625POGZc.2713T>A (p.Ser905Thr)
c.2506T>A (p.Ser836Thr)
c.2665T>A (p.Ser889Thr)
c.2686T>A (p.Ser896Thr)
n.2813T>A
c.2380T>A (p.Ser794Thr)
c.2638T>A (p.Ser880Thr)
c.2533T>A (p.Ser845Thr)
c.865T>A (p.Ser289Thr)
c.2479T>A (p.Ser827Thr)
c.2557T>A (p.Ser853Thr)
c.2308T>A (p.Ser770Thr)
c.2539T>A (p.Ser847Thr)
c.1465T>A (p.Ser489Thr)
n.2520T>A
1g.151406370_151406373delinsCCA2580061029POGZc.2710_2713delinsG (p.Lys904_Ser905delinsAla)
c.2503_2506delinsG (p.Lys835_Ser836delinsAla)
c.2662_2665delinsG (p.Lys888_Ser889delinsAla)
c.2683_2686delinsG (p.Lys895_Ser896delinsAla)
n.2810_2813delinsG
c.2377_2380delinsG (p.Lys793_Ser794delinsAla)
c.2635_2638delinsG (p.Lys879_Ser880delinsAla)
c.2530_2533delinsG (p.Lys844_Ser845delinsAla)
c.862_865delinsG (p.Lys288_Ser289delinsAla)
c.2476_2479delinsG (p.Lys826_Ser827delinsAla)
c.2554_2557delinsG (p.Lys852_Ser853delinsAla)
c.2305_2308delinsG (p.Lys769_Ser770delinsAla)
c.2536_2539delinsG (p.Lys846_Ser847delinsAla)
c.1462_1465delinsG (p.Lys488_Ser489delinsAla)
n.2517_2520delinsG
 ClinVar dbSNP
1g.151406371T>ACA341949629POGZc.2712A>T (p.Lys904Asn)
c.2505A>T (p.Lys835Asn)
c.2664A>T (p.Lys888Asn)
c.2685A>T (p.Lys895Asn)
n.2812A>T
c.2379A>T (p.Lys793Asn)
c.2637A>T (p.Lys879Asn)
c.2532A>T (p.Lys844Asn)
c.864A>T (p.Lys288Asn)
c.2478A>T (p.Lys826Asn)
c.2556A>T (p.Lys852Asn)
c.2307A>T (p.Lys769Asn)
c.2538A>T (p.Lys846Asn)
c.1464A>T (p.Lys488Asn)
n.2519A>T
1g.151406371T>CCA420909714POGZc.2712A>G (p.Lys904=)
c.2505A>G (p.Lys835=)
c.2664A>G (p.Lys888=)
c.2685A>G (p.Lys895=)
n.2812A>G
c.2379A>G (p.Lys793=)
c.2637A>G (p.Lys879=)
c.2532A>G (p.Lys844=)
c.864A>G (p.Lys288=)
c.2478A>G (p.Lys826=)
c.2556A>G (p.Lys852=)
c.2307A>G (p.Lys769=)
c.2538A>G (p.Lys846=)
c.1464A>G (p.Lys488=)
n.2519A>G
1g.151406371T>GCA341949627POGZc.2712A>C (p.Lys904Asn)
c.2505A>C (p.Lys835Asn)
c.2664A>C (p.Lys888Asn)
c.2685A>C (p.Lys895Asn)
n.2812A>C
c.2379A>C (p.Lys793Asn)
c.2637A>C (p.Lys879Asn)
c.2532A>C (p.Lys844Asn)
c.864A>C (p.Lys288Asn)
c.2478A>C (p.Lys826Asn)
c.2556A>C (p.Lys852Asn)
c.2307A>C (p.Lys769Asn)
c.2538A>C (p.Lys846Asn)
c.1464A>C (p.Lys488Asn)
n.2519A>C
1g.151406372T>ACA341949636POGZc.2711A>T (p.Lys904Ile)
c.2504A>T (p.Lys835Ile)
c.2663A>T (p.Lys888Ile)
c.2684A>T (p.Lys895Ile)
n.2811A>T
c.2378A>T (p.Lys793Ile)
c.2636A>T (p.Lys879Ile)
c.2531A>T (p.Lys844Ile)
c.863A>T (p.Lys288Ile)
c.2477A>T (p.Lys826Ile)
c.2555A>T (p.Lys852Ile)
c.2306A>T (p.Lys769Ile)
c.2537A>T (p.Lys846Ile)
c.1463A>T (p.Lys488Ile)
n.2518A>T
1g.151406372T>CCA341949638POGZc.2711A>G (p.Lys904Arg)
c.2504A>G (p.Lys835Arg)
c.2663A>G (p.Lys888Arg)
c.2684A>G (p.Lys895Arg)
n.2811A>G
c.2378A>G (p.Lys793Arg)
c.2636A>G (p.Lys879Arg)
c.2531A>G (p.Lys844Arg)
c.863A>G (p.Lys288Arg)
c.2477A>G (p.Lys826Arg)
c.2555A>G (p.Lys852Arg)
c.2306A>G (p.Lys769Arg)
c.2537A>G (p.Lys846Arg)
c.1463A>G (p.Lys488Arg)
n.2518A>G
1g.151406372T>GCA341949640POGZc.2711A>C (p.Lys904Thr)
c.2504A>C (p.Lys835Thr)
c.2663A>C (p.Lys888Thr)
c.2684A>C (p.Lys895Thr)
n.2811A>C
c.2378A>C (p.Lys793Thr)
c.2636A>C (p.Lys879Thr)
c.2531A>C (p.Lys844Thr)
c.863A>C (p.Lys288Thr)
c.2477A>C (p.Lys826Thr)
c.2555A>C (p.Lys852Thr)
c.2306A>C (p.Lys769Thr)
c.2537A>C (p.Lys846Thr)
c.1463A>C (p.Lys488Thr)
n.2518A>C
1g.151406373T>ACA341949645POGZc.2710A>T (p.Lys904Ter)
c.2503A>T (p.Lys835Ter)
c.2662A>T (p.Lys888Ter)
c.2683A>T (p.Lys895Ter)
n.2810A>T
c.2377A>T (p.Lys793Ter)
c.2635A>T (p.Lys879Ter)
c.2530A>T (p.Lys844Ter)
c.862A>T (p.Lys288Ter)
c.2476A>T (p.Lys826Ter)
c.2554A>T (p.Lys852Ter)
c.2305A>T (p.Lys769Ter)
c.2536A>T (p.Lys846Ter)
c.1462A>T (p.Lys488Ter)
n.2517A>T
1g.151406373T>CCA341949648POGZc.2710A>G (p.Lys904Glu)
c.2503A>G (p.Lys835Glu)
c.2662A>G (p.Lys888Glu)
c.2683A>G (p.Lys895Glu)
n.2810A>G
c.2377A>G (p.Lys793Glu)
c.2635A>G (p.Lys879Glu)
c.2530A>G (p.Lys844Glu)
c.862A>G (p.Lys288Glu)
c.2476A>G (p.Lys826Glu)
c.2554A>G (p.Lys852Glu)
c.2305A>G (p.Lys769Glu)
c.2536A>G (p.Lys846Glu)
c.1462A>G (p.Lys488Glu)
n.2517A>G
 gnomAD v4
1g.151406373T>GCA341949651POGZc.2710A>C (p.Lys904Gln)
c.2503A>C (p.Lys835Gln)
c.2662A>C (p.Lys888Gln)
c.2683A>C (p.Lys895Gln)
n.2810A>C
c.2377A>C (p.Lys793Gln)
c.2635A>C (p.Lys879Gln)
c.2530A>C (p.Lys844Gln)
c.862A>C (p.Lys288Gln)
c.2476A>C (p.Lys826Gln)
c.2554A>C (p.Lys852Gln)
c.2305A>C (p.Lys769Gln)
c.2536A>C (p.Lys846Gln)
c.1462A>C (p.Lys488Gln)
n.2517A>C
1g.151406374C>ACA420909718POGZc.2709G>T (p.Val903=)
c.2502G>T (p.Val834=)
c.2661G>T (p.Val887=)
c.2682G>T (p.Val894=)
n.2809G>T
c.2376G>T (p.Val792=)
c.2634G>T (p.Val878=)
c.2529G>T (p.Val843=)
c.861G>T (p.Val287=)
c.2475G>T (p.Val825=)
c.2553G>T (p.Val851=)
c.2304G>T (p.Val768=)
c.2535G>T (p.Val845=)
c.1461G>T (p.Val487=)
n.2516G>T
 gnomAD v4
1g.151406374C>GCA420909720POGZc.2709G>C (p.Val903=)
c.2502G>C (p.Val834=)
c.2661G>C (p.Val887=)
c.2682G>C (p.Val894=)
n.2809G>C
c.2376G>C (p.Val792=)
c.2634G>C (p.Val878=)
c.2529G>C (p.Val843=)
c.861G>C (p.Val287=)
c.2475G>C (p.Val825=)
c.2553G>C (p.Val851=)
c.2304G>C (p.Val768=)
c.2535G>C (p.Val845=)
c.1461G>C (p.Val487=)
n.2516G>C
1g.151406374C>TCA420909724POGZc.2709G>A (p.Val903=)
c.2502G>A (p.Val834=)
c.2661G>A (p.Val887=)
c.2682G>A (p.Val894=)
n.2809G>A
c.2376G>A (p.Val792=)
c.2634G>A (p.Val878=)
c.2529G>A (p.Val843=)
c.861G>A (p.Val287=)
c.2475G>A (p.Val825=)
c.2553G>A (p.Val851=)
c.2304G>A (p.Val768=)
c.2535G>A (p.Val845=)
c.1461G>A (p.Val487=)
n.2516G>A
1g.151406375A>CCA341949659POGZc.2708T>G (p.Val903Gly)
c.2501T>G (p.Val834Gly)
c.2660T>G (p.Val887Gly)
c.2681T>G (p.Val894Gly)
n.2808T>G
c.2375T>G (p.Val792Gly)
c.2633T>G (p.Val878Gly)
c.2528T>G (p.Val843Gly)
c.860T>G (p.Val287Gly)
c.2474T>G (p.Val825Gly)
c.2552T>G (p.Val851Gly)
c.2303T>G (p.Val768Gly)
c.2534T>G (p.Val845Gly)
c.1460T>G (p.Val487Gly)
n.2515T>G
1g.151406375A>GCA341949658POGZc.2708T>C (p.Val903Ala)
c.2501T>C (p.Val834Ala)
c.2660T>C (p.Val887Ala)
c.2681T>C (p.Val894Ala)
n.2808T>C
c.2375T>C (p.Val792Ala)
c.2633T>C (p.Val878Ala)
c.2528T>C (p.Val843Ala)
c.860T>C (p.Val287Ala)
c.2474T>C (p.Val825Ala)
c.2552T>C (p.Val851Ala)
c.2303T>C (p.Val768Ala)
c.2534T>C (p.Val845Ala)
c.1460T>C (p.Val487Ala)
n.2515T>C
 gnomAD v4
1g.151406375A>TCA341949656POGZc.2708T>A (p.Val903Glu)
c.2501T>A (p.Val834Glu)
c.2660T>A (p.Val887Glu)
c.2681T>A (p.Val894Glu)
n.2808T>A
c.2375T>A (p.Val792Glu)
c.2633T>A (p.Val878Glu)
c.2528T>A (p.Val843Glu)
c.860T>A (p.Val287Glu)
c.2474T>A (p.Val825Glu)
c.2552T>A (p.Val851Glu)
c.2303T>A (p.Val768Glu)
c.2534T>A (p.Val845Glu)
c.1460T>A (p.Val487Glu)
n.2515T>A
1g.151406376C>ACA341949664POGZc.2707G>T (p.Val903Leu)
c.2500G>T (p.Val834Leu)
c.2659G>T (p.Val887Leu)
c.2680G>T (p.Val894Leu)
n.2807G>T
c.2374G>T (p.Val792Leu)
c.2632G>T (p.Val878Leu)
c.2527G>T (p.Val843Leu)
c.859G>T (p.Val287Leu)
c.2473G>T (p.Val825Leu)
c.2551G>T (p.Val851Leu)
c.2302G>T (p.Val768Leu)
c.2533G>T (p.Val845Leu)
c.1459G>T (p.Val487Leu)
n.2514G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406376C=CA2479570634POGZc.2707G= (p.Val903=)
c.2500G= (p.Val834=)
c.2659G= (p.Val887=)
c.2680G= (p.Val894=)
n.2807G=
c.2374G= (p.Val792=)
c.2632G= (p.Val878=)
c.2527G= (p.Val843=)
c.859G= (p.Val287=)
c.2473G= (p.Val825=)
c.2551G= (p.Val851=)
c.2302G= (p.Val768=)
c.2533G= (p.Val845=)
c.1459G= (p.Val487=)
n.2514G=
1g.151406376C>GCA341949666POGZc.2707G>C (p.Val903Leu)
c.2500G>C (p.Val834Leu)
c.2659G>C (p.Val887Leu)
c.2680G>C (p.Val894Leu)
n.2807G>C
c.2374G>C (p.Val792Leu)
c.2632G>C (p.Val878Leu)
c.2527G>C (p.Val843Leu)
c.859G>C (p.Val287Leu)
c.2473G>C (p.Val825Leu)
c.2551G>C (p.Val851Leu)
c.2302G>C (p.Val768Leu)
c.2533G>C (p.Val845Leu)
c.1459G>C (p.Val487Leu)
n.2514G>C
1g.151406376C>TCA341949668POGZc.2707G>A (p.Val903Met)
c.2500G>A (p.Val834Met)
c.2659G>A (p.Val887Met)
c.2680G>A (p.Val894Met)
n.2807G>A
c.2374G>A (p.Val792Met)
c.2632G>A (p.Val878Met)
c.2527G>A (p.Val843Met)
c.859G>A (p.Val287Met)
c.2473G>A (p.Val825Met)
c.2551G>A (p.Val851Met)
c.2302G>A (p.Val768Met)
c.2533G>A (p.Val845Met)
c.1459G>A (p.Val487Met)
n.2514G>A
 dbSNP gnomAD v4
1g.151406377A>CCA420909729POGZc.2706T>G (p.Thr902=)
c.2499T>G (p.Thr833=)
c.2658T>G (p.Thr886=)
c.2679T>G (p.Thr893=)
n.2806T>G
c.2373T>G (p.Thr791=)
c.2631T>G (p.Thr877=)
c.2526T>G (p.Thr842=)
c.858T>G (p.Thr286=)
c.2472T>G (p.Thr824=)
c.2550T>G (p.Thr850=)
c.2301T>G (p.Thr767=)
c.2532T>G (p.Thr844=)
c.1458T>G (p.Thr486=)
n.2513T>G
1g.151406377A>GCA420909732POGZc.2706T>C (p.Thr902=)
c.2499T>C (p.Thr833=)
c.2658T>C (p.Thr886=)
c.2679T>C (p.Thr893=)
n.2806T>C
c.2373T>C (p.Thr791=)
c.2631T>C (p.Thr877=)
c.2526T>C (p.Thr842=)
c.858T>C (p.Thr286=)
c.2472T>C (p.Thr824=)
c.2550T>C (p.Thr850=)
c.2301T>C (p.Thr767=)
c.2532T>C (p.Thr844=)
c.1458T>C (p.Thr486=)
n.2513T>C
 gnomAD v4
1g.151406377A>TCA420909733POGZc.2706T>A (p.Thr902=)
c.2499T>A (p.Thr833=)
c.2658T>A (p.Thr886=)
c.2679T>A (p.Thr893=)
n.2806T>A
c.2373T>A (p.Thr791=)
c.2631T>A (p.Thr877=)
c.2526T>A (p.Thr842=)
c.858T>A (p.Thr286=)
c.2472T>A (p.Thr824=)
c.2550T>A (p.Thr850=)
c.2301T>A (p.Thr767=)
c.2532T>A (p.Thr844=)
c.1458T>A (p.Thr486=)
n.2513T>A
1g.151406378G>ACA341949672POGZc.2705C>T (p.Thr902Ile)
c.2498C>T (p.Thr833Ile)
c.2657C>T (p.Thr886Ile)
c.2678C>T (p.Thr893Ile)
n.2805C>T
c.2372C>T (p.Thr791Ile)
c.2630C>T (p.Thr877Ile)
c.2525C>T (p.Thr842Ile)
c.857C>T (p.Thr286Ile)
c.2471C>T (p.Thr824Ile)
c.2549C>T (p.Thr850Ile)
c.2300C>T (p.Thr767Ile)
c.2531C>T (p.Thr844Ile)
c.1457C>T (p.Thr486Ile)
n.2512C>T
1g.151406378G>CCA341949675POGZc.2705C>G (p.Thr902Ser)
c.2498C>G (p.Thr833Ser)
c.2657C>G (p.Thr886Ser)
c.2678C>G (p.Thr893Ser)
n.2805C>G
c.2372C>G (p.Thr791Ser)
c.2630C>G (p.Thr877Ser)
c.2525C>G (p.Thr842Ser)
c.857C>G (p.Thr286Ser)
c.2471C>G (p.Thr824Ser)
c.2549C>G (p.Thr850Ser)
c.2300C>G (p.Thr767Ser)
c.2531C>G (p.Thr844Ser)
c.1457C>G (p.Thr486Ser)
n.2512C>G
1g.151406378G>TCA341949677POGZc.2705C>A (p.Thr902Asn)
c.2498C>A (p.Thr833Asn)
c.2657C>A (p.Thr886Asn)
c.2678C>A (p.Thr893Asn)
n.2805C>A
c.2372C>A (p.Thr791Asn)
c.2630C>A (p.Thr877Asn)
c.2525C>A (p.Thr842Asn)
c.857C>A (p.Thr286Asn)
c.2471C>A (p.Thr824Asn)
c.2549C>A (p.Thr850Asn)
c.2300C>A (p.Thr767Asn)
c.2531C>A (p.Thr844Asn)
c.1457C>A (p.Thr486Asn)
n.2512C>A
1g.151406379T>ACA341949682POGZc.2704A>T (p.Thr902Ser)
c.2497A>T (p.Thr833Ser)
c.2656A>T (p.Thr886Ser)
c.2677A>T (p.Thr893Ser)
n.2804A>T
c.2371A>T (p.Thr791Ser)
c.2629A>T (p.Thr877Ser)
c.2524A>T (p.Thr842Ser)
c.856A>T (p.Thr286Ser)
c.2470A>T (p.Thr824Ser)
c.2548A>T (p.Thr850Ser)
c.2299A>T (p.Thr767Ser)
c.2530A>T (p.Thr844Ser)
c.1456A>T (p.Thr486Ser)
n.2511A>T
1g.151406379T>CCA341949687POGZc.2704A>G (p.Thr902Ala)
c.2497A>G (p.Thr833Ala)
c.2656A>G (p.Thr886Ala)
c.2677A>G (p.Thr893Ala)
n.2804A>G
c.2371A>G (p.Thr791Ala)
c.2629A>G (p.Thr877Ala)
c.2524A>G (p.Thr842Ala)
c.856A>G (p.Thr286Ala)
c.2470A>G (p.Thr824Ala)
c.2548A>G (p.Thr850Ala)
c.2299A>G (p.Thr767Ala)
c.2530A>G (p.Thr844Ala)
c.1456A>G (p.Thr486Ala)
n.2511A>G
1g.151406379T>GCA341949684POGZc.2704A>C (p.Thr902Pro)
c.2497A>C (p.Thr833Pro)
c.2656A>C (p.Thr886Pro)
c.2677A>C (p.Thr893Pro)
n.2804A>C
c.2371A>C (p.Thr791Pro)
c.2629A>C (p.Thr877Pro)
c.2524A>C (p.Thr842Pro)
c.856A>C (p.Thr286Pro)
c.2470A>C (p.Thr824Pro)
c.2548A>C (p.Thr850Pro)
c.2299A>C (p.Thr767Pro)
c.2530A>C (p.Thr844Pro)
c.1456A>C (p.Thr486Pro)
n.2511A>C
1g.151406379_151406380delinsTGCA2479570635POGZc.2703_2704delinsCA (p.Ala901=)
c.2496_2497delinsCA (p.Ala832=)
c.2655_2656delinsCA (p.Ala885=)
c.2676_2677delinsCA (p.Ala892=)
n.2803_2804delinsCA
c.2370_2371delinsCA (p.Ala790=)
c.2628_2629delinsCA (p.Ala876=)
c.2523_2524delinsCA (p.Ala841=)
c.855_856delinsCA (p.Ala285=)
c.2469_2470delinsCA (p.Ala823=)
c.2547_2548delinsCA (p.Ala849=)
c.2298_2299delinsCA (p.Ala766=)
c.2529_2530delinsCA (p.Ala843=)
c.1455_1456delinsCA (p.Ala485=)
n.2510_2511delinsCA
1g.151406380G>ACA420909738POGZc.2703C>T (p.Ala901=)
c.2496C>T (p.Ala832=)
c.2655C>T (p.Ala885=)
c.2676C>T (p.Ala892=)
n.2803C>T
c.2370C>T (p.Ala790=)
c.2628C>T (p.Ala876=)
c.2523C>T (p.Ala841=)
c.855C>T (p.Ala285=)
c.2469C>T (p.Ala823=)
c.2547C>T (p.Ala849=)
c.2298C>T (p.Ala766=)
c.2529C>T (p.Ala843=)
c.1455C>T (p.Ala485=)
n.2510C>T
 gnomAD v4
1g.151406380G>CCA420909741POGZc.2703C>G (p.Ala901=)
c.2496C>G (p.Ala832=)
c.2655C>G (p.Ala885=)
c.2676C>G (p.Ala892=)
n.2803C>G
c.2370C>G (p.Ala790=)
c.2628C>G (p.Ala876=)
c.2523C>G (p.Ala841=)
c.855C>G (p.Ala285=)
c.2469C>G (p.Ala823=)
c.2547C>G (p.Ala849=)
c.2298C>G (p.Ala766=)
c.2529C>G (p.Ala843=)
c.1455C>G (p.Ala485=)
n.2510C>G
1g.151406380G>TCA420909739POGZc.2703C>A (p.Ala901=)
c.2496C>A (p.Ala832=)
c.2655C>A (p.Ala885=)
c.2676C>A (p.Ala892=)
n.2803C>A
c.2370C>A (p.Ala790=)
c.2628C>A (p.Ala876=)
c.2523C>A (p.Ala841=)
c.855C>A (p.Ala285=)
c.2469C>A (p.Ala823=)
c.2547C>A (p.Ala849=)
c.2298C>A (p.Ala766=)
c.2529C>A (p.Ala843=)
c.1455C>A (p.Ala485=)
n.2510C>A
1g.151406381delCA915941414POGZc.2703del (p.Thr902LeufsTer2)
c.2496del (p.Thr833LeufsTer2)
c.2655del (p.Thr886LeufsTer2)
c.2676del (p.Thr893LeufsTer2)
n.2803del
c.2370del (p.Thr791LeufsTer2)
c.2628del (p.Thr877LeufsTer2)
c.2523del (p.Thr842LeufsTer2)
c.855del (p.Thr286LeufsTer2)
c.2469del (p.Thr824LeufsTer2)
c.2547del (p.Thr850LeufsTer2)
c.2298del (p.Thr767LeufsTer2)
c.2529del (p.Thr844LeufsTer2)
c.1455del (p.Thr486LeufsTer2)
n.2510del
 ClinVar dbSNP gnomAD v4
1g.151406381G>ACA341949693POGZc.2702C>T (p.Ala901Val)
c.2495C>T (p.Ala832Val)
c.2654C>T (p.Ala885Val)
c.2675C>T (p.Ala892Val)
n.2802C>T
c.2369C>T (p.Ala790Val)
c.2627C>T (p.Ala876Val)
c.2522C>T (p.Ala841Val)
c.854C>T (p.Ala285Val)
c.2468C>T (p.Ala823Val)
c.2546C>T (p.Ala849Val)
c.2297C>T (p.Ala766Val)
c.2528C>T (p.Ala843Val)
c.1454C>T (p.Ala485Val)
n.2509C>T
 gnomAD v4
1g.151406381G>CCA341949696POGZc.2702C>G (p.Ala901Gly)
c.2495C>G (p.Ala832Gly)
c.2654C>G (p.Ala885Gly)
c.2675C>G (p.Ala892Gly)
n.2802C>G
c.2369C>G (p.Ala790Gly)
c.2627C>G (p.Ala876Gly)
c.2522C>G (p.Ala841Gly)
c.854C>G (p.Ala285Gly)
c.2468C>G (p.Ala823Gly)
c.2546C>G (p.Ala849Gly)
c.2297C>G (p.Ala766Gly)
c.2528C>G (p.Ala843Gly)
c.1454C>G (p.Ala485Gly)
n.2509C>G
1g.151406381G>TCA341949700POGZc.2702C>A (p.Ala901Asp)
c.2495C>A (p.Ala832Asp)
c.2654C>A (p.Ala885Asp)
c.2675C>A (p.Ala892Asp)
n.2802C>A
c.2369C>A (p.Ala790Asp)
c.2627C>A (p.Ala876Asp)
c.2522C>A (p.Ala841Asp)
c.854C>A (p.Ala285Asp)
c.2468C>A (p.Ala823Asp)
c.2546C>A (p.Ala849Asp)
c.2297C>A (p.Ala766Asp)
c.2528C>A (p.Ala843Asp)
c.1454C>A (p.Ala485Asp)
n.2509C>A
 gnomAD v4
1g.151406382C>ACA341949704POGZc.2701G>T (p.Ala901Ser)
c.2494G>T (p.Ala832Ser)
c.2653G>T (p.Ala885Ser)
c.2674G>T (p.Ala892Ser)
n.2801G>T
c.2368G>T (p.Ala790Ser)
c.2626G>T (p.Ala876Ser)
c.2521G>T (p.Ala841Ser)
c.853G>T (p.Ala285Ser)
c.2467G>T (p.Ala823Ser)
c.2545G>T (p.Ala849Ser)
c.2296G>T (p.Ala766Ser)
c.2527G>T (p.Ala843Ser)
c.1453G>T (p.Ala485Ser)
n.2508G>T
 gnomAD v4
1g.151406382C>GCA341949708POGZc.2701G>C (p.Ala901Pro)
c.2494G>C (p.Ala832Pro)
c.2653G>C (p.Ala885Pro)
c.2674G>C (p.Ala892Pro)
n.2801G>C
c.2368G>C (p.Ala790Pro)
c.2626G>C (p.Ala876Pro)
c.2521G>C (p.Ala841Pro)
c.853G>C (p.Ala285Pro)
c.2467G>C (p.Ala823Pro)
c.2545G>C (p.Ala849Pro)
c.2296G>C (p.Ala766Pro)
c.2527G>C (p.Ala843Pro)
c.1453G>C (p.Ala485Pro)
n.2508G>C
1g.151406382C>TCA341949710POGZc.2701G>A (p.Ala901Thr)
c.2494G>A (p.Ala832Thr)
c.2653G>A (p.Ala885Thr)
c.2674G>A (p.Ala892Thr)
n.2801G>A
c.2368G>A (p.Ala790Thr)
c.2626G>A (p.Ala876Thr)
c.2521G>A (p.Ala841Thr)
c.853G>A (p.Ala285Thr)
c.2467G>A (p.Ala823Thr)
c.2545G>A (p.Ala849Thr)
c.2296G>A (p.Ala766Thr)
c.2527G>A (p.Ala843Thr)
c.1453G>A (p.Ala485Thr)
n.2508G>A
1g.151406383A>CCA420909747POGZc.2700T>G (p.Ala900=)
c.2493T>G (p.Ala831=)
c.2652T>G (p.Ala884=)
c.2673T>G (p.Ala891=)
n.2800T>G
c.2367T>G (p.Ala789=)
c.2625T>G (p.Ala875=)
c.2520T>G (p.Ala840=)
c.852T>G (p.Ala284=)
c.2466T>G (p.Ala822=)
c.2544T>G (p.Ala848=)
c.2295T>G (p.Ala765=)
c.2526T>G (p.Ala842=)
c.1452T>G (p.Ala484=)
n.2507T>G
1g.151406383A>GCA420909749POGZc.2700T>C (p.Ala900=)
c.2493T>C (p.Ala831=)
c.2652T>C (p.Ala884=)
c.2673T>C (p.Ala891=)
n.2800T>C
c.2367T>C (p.Ala789=)
c.2625T>C (p.Ala875=)
c.2520T>C (p.Ala840=)
c.852T>C (p.Ala284=)
c.2466T>C (p.Ala822=)
c.2544T>C (p.Ala848=)
c.2295T>C (p.Ala765=)
c.2526T>C (p.Ala842=)
c.1452T>C (p.Ala484=)
n.2507T>C
1g.151406383A>TCA420909750POGZc.2700T>A (p.Ala900=)
c.2493T>A (p.Ala831=)
c.2652T>A (p.Ala884=)
c.2673T>A (p.Ala891=)
n.2800T>A
c.2367T>A (p.Ala789=)
c.2625T>A (p.Ala875=)
c.2520T>A (p.Ala840=)
c.852T>A (p.Ala284=)
c.2466T>A (p.Ala822=)
c.2544T>A (p.Ala848=)
c.2295T>A (p.Ala765=)
c.2526T>A (p.Ala842=)
c.1452T>A (p.Ala484=)
n.2507T>A
 gnomAD v4
1g.151406384G>ACA1091085POGZc.2699C>T (p.Ala900Val)
c.2492C>T (p.Ala831Val)
c.2651C>T (p.Ala884Val)
c.2672C>T (p.Ala891Val)
n.2799C>T
c.2366C>T (p.Ala789Val)
c.2624C>T (p.Ala875Val)
c.2519C>T (p.Ala840Val)
c.851C>T (p.Ala284Val)
c.2465C>T (p.Ala822Val)
c.2543C>T (p.Ala848Val)
c.2294C>T (p.Ala765Val)
c.2525C>T (p.Ala842Val)
c.1451C>T (p.Ala484Val)
n.2506C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406384G>CCA341949716POGZc.2699C>G (p.Ala900Gly)
c.2492C>G (p.Ala831Gly)
c.2651C>G (p.Ala884Gly)
c.2672C>G (p.Ala891Gly)
n.2799C>G
c.2366C>G (p.Ala789Gly)
c.2624C>G (p.Ala875Gly)
c.2519C>G (p.Ala840Gly)
c.851C>G (p.Ala284Gly)
c.2465C>G (p.Ala822Gly)
c.2543C>G (p.Ala848Gly)
c.2294C>G (p.Ala765Gly)
c.2525C>G (p.Ala842Gly)
c.1451C>G (p.Ala484Gly)
n.2506C>G
1g.151406384G=CA2479570636POGZc.2699C= (p.Ala900=)
c.2492C= (p.Ala831=)
c.2651C= (p.Ala884=)
c.2672C= (p.Ala891=)
n.2799C=
c.2366C= (p.Ala789=)
c.2624C= (p.Ala875=)
c.2519C= (p.Ala840=)
c.851C= (p.Ala284=)
c.2465C= (p.Ala822=)
c.2543C= (p.Ala848=)
c.2294C= (p.Ala765=)
c.2525C= (p.Ala842=)
c.1451C= (p.Ala484=)
n.2506C=
1g.151406384G>TCA341949717POGZc.2699C>A (p.Ala900Asp)
c.2492C>A (p.Ala831Asp)
c.2651C>A (p.Ala884Asp)
c.2672C>A (p.Ala891Asp)
n.2799C>A
c.2366C>A (p.Ala789Asp)
c.2624C>A (p.Ala875Asp)
c.2519C>A (p.Ala840Asp)
c.851C>A (p.Ala284Asp)
c.2465C>A (p.Ala822Asp)
c.2543C>A (p.Ala848Asp)
c.2294C>A (p.Ala765Asp)
c.2525C>A (p.Ala842Asp)
c.1451C>A (p.Ala484Asp)
n.2506C>A
1g.151406385C>ACA341949722POGZc.2698G>T (p.Ala900Ser)
c.2491G>T (p.Ala831Ser)
c.2650G>T (p.Ala884Ser)
c.2671G>T (p.Ala891Ser)
n.2798G>T
c.2365G>T (p.Ala789Ser)
c.2623G>T (p.Ala875Ser)
c.2518G>T (p.Ala840Ser)
c.850G>T (p.Ala284Ser)
c.2464G>T (p.Ala822Ser)
c.2542G>T (p.Ala848Ser)
c.2293G>T (p.Ala765Ser)
c.2524G>T (p.Ala842Ser)
c.1450G>T (p.Ala484Ser)
n.2505G>T
 gnomAD v4
1g.151406385C=CA1148414548POGZc.2698G= (p.Ala900=)
c.2491G= (p.Ala831=)
c.2650G= (p.Ala884=)
c.2671G= (p.Ala891=)
n.2798G=
c.2365G= (p.Ala789=)
c.2623G= (p.Ala875=)
c.2518G= (p.Ala840=)
c.850G= (p.Ala284=)
c.2464G= (p.Ala822=)
c.2542G= (p.Ala848=)
c.2293G= (p.Ala765=)
c.2524G= (p.Ala842=)
c.1450G= (p.Ala484=)
n.2505G=
1g.151406385C>GCA1091086POGZc.2698G>C (p.Ala900Pro)
c.2491G>C (p.Ala831Pro)
c.2650G>C (p.Ala884Pro)
c.2671G>C (p.Ala891Pro)
n.2798G>C
c.2365G>C (p.Ala789Pro)
c.2623G>C (p.Ala875Pro)
c.2518G>C (p.Ala840Pro)
c.850G>C (p.Ala284Pro)
c.2464G>C (p.Ala822Pro)
c.2542G>C (p.Ala848Pro)
c.2293G>C (p.Ala765Pro)
c.2524G>C (p.Ala842Pro)
c.1450G>C (p.Ala484Pro)
n.2505G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406385C>TCA341949725POGZc.2698G>A (p.Ala900Thr)
c.2491G>A (p.Ala831Thr)
c.2650G>A (p.Ala884Thr)
c.2671G>A (p.Ala891Thr)
n.2798G>A
c.2365G>A (p.Ala789Thr)
c.2623G>A (p.Ala875Thr)
c.2518G>A (p.Ala840Thr)
c.850G>A (p.Ala284Thr)
c.2464G>A (p.Ala822Thr)
c.2542G>A (p.Ala848Thr)
c.2293G>A (p.Ala765Thr)
c.2524G>A (p.Ala842Thr)
c.1450G>A (p.Ala484Thr)
n.2505G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406386T>ACA341949730POGZc.2697A>T (p.Lys899Asn)
c.2490A>T (p.Lys830Asn)
c.2649A>T (p.Lys883Asn)
c.2670A>T (p.Lys890Asn)
n.2797A>T
c.2364A>T (p.Lys788Asn)
c.2622A>T (p.Lys874Asn)
c.2517A>T (p.Lys839Asn)
c.849A>T (p.Lys283Asn)
c.2463A>T (p.Lys821Asn)
c.2541A>T (p.Lys847Asn)
c.2292A>T (p.Lys764Asn)
c.2523A>T (p.Lys841Asn)
c.1449A>T (p.Lys483Asn)
n.2504A>T
1g.151406386T>CCA420909759POGZc.2697A>G (p.Lys899=)
c.2490A>G (p.Lys830=)
c.2649A>G (p.Lys883=)
c.2670A>G (p.Lys890=)
n.2797A>G
c.2364A>G (p.Lys788=)
c.2622A>G (p.Lys874=)
c.2517A>G (p.Lys839=)
c.849A>G (p.Lys283=)
c.2463A>G (p.Lys821=)
c.2541A>G (p.Lys847=)
c.2292A>G (p.Lys764=)
c.2523A>G (p.Lys841=)
c.1449A>G (p.Lys483=)
n.2504A>G
1g.151406386T>GCA341949733POGZc.2697A>C (p.Lys899Asn)
c.2490A>C (p.Lys830Asn)
c.2649A>C (p.Lys883Asn)
c.2670A>C (p.Lys890Asn)
n.2797A>C
c.2364A>C (p.Lys788Asn)
c.2622A>C (p.Lys874Asn)
c.2517A>C (p.Lys839Asn)
c.849A>C (p.Lys283Asn)
c.2463A>C (p.Lys821Asn)
c.2541A>C (p.Lys847Asn)
c.2292A>C (p.Lys764Asn)
c.2523A>C (p.Lys841Asn)
c.1449A>C (p.Lys483Asn)
n.2504A>C
1g.151406387T>ACA341949737POGZc.2696A>T (p.Lys899Ile)
c.2489A>T (p.Lys830Ile)
c.2648A>T (p.Lys883Ile)
c.2669A>T (p.Lys890Ile)
n.2796A>T
c.2363A>T (p.Lys788Ile)
c.2621A>T (p.Lys874Ile)
c.2516A>T (p.Lys839Ile)
c.848A>T (p.Lys283Ile)
c.2462A>T (p.Lys821Ile)
c.2540A>T (p.Lys847Ile)
c.2291A>T (p.Lys764Ile)
c.2522A>T (p.Lys841Ile)
c.1448A>T (p.Lys483Ile)
n.2503A>T
1g.151406387T>CCA1091087POGZc.2696A>G (p.Lys899Arg)
c.2489A>G (p.Lys830Arg)
c.2648A>G (p.Lys883Arg)
c.2669A>G (p.Lys890Arg)
n.2796A>G
c.2363A>G (p.Lys788Arg)
c.2621A>G (p.Lys874Arg)
c.2516A>G (p.Lys839Arg)
c.848A>G (p.Lys283Arg)
c.2462A>G (p.Lys821Arg)
c.2540A>G (p.Lys847Arg)
c.2291A>G (p.Lys764Arg)
c.2522A>G (p.Lys841Arg)
c.1448A>G (p.Lys483Arg)
n.2503A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406387T>GCA341949740POGZc.2696A>C (p.Lys899Thr)
c.2489A>C (p.Lys830Thr)
c.2648A>C (p.Lys883Thr)
c.2669A>C (p.Lys890Thr)
n.2796A>C
c.2363A>C (p.Lys788Thr)
c.2621A>C (p.Lys874Thr)
c.2516A>C (p.Lys839Thr)
c.848A>C (p.Lys283Thr)
c.2462A>C (p.Lys821Thr)
c.2540A>C (p.Lys847Thr)
c.2291A>C (p.Lys764Thr)
c.2522A>C (p.Lys841Thr)
c.1448A>C (p.Lys483Thr)
n.2503A>C
1g.151406387T=CA2479570637POGZc.2696A= (p.Lys899=)
c.2489A= (p.Lys830=)
c.2648A= (p.Lys883=)
c.2669A= (p.Lys890=)
n.2796A=
c.2363A= (p.Lys788=)
c.2621A= (p.Lys874=)
c.2516A= (p.Lys839=)
c.848A= (p.Lys283=)
c.2462A= (p.Lys821=)
c.2540A= (p.Lys847=)
c.2291A= (p.Lys764=)
c.2522A= (p.Lys841=)
c.1448A= (p.Lys483=)
n.2503A=
1g.151406387_151406389delinsTTGCA2479570638POGZc.2694_2696delinsCAA (p.Asn898=)
c.2487_2489delinsCAA (p.Asn829=)
c.2646_2648delinsCAA (p.Asn882=)
c.2667_2669delinsCAA (p.Asn889=)
n.2794_2796delinsCAA
c.2361_2363delinsCAA (p.Asn787=)
c.2619_2621delinsCAA (p.Asn873=)
c.2514_2516delinsCAA (p.Asn838=)
c.846_848delinsCAA (p.Asn282=)
c.2460_2462delinsCAA (p.Asn820=)
c.2538_2540delinsCAA (p.Asn846=)
c.2289_2291delinsCAA (p.Asn763=)
c.2520_2522delinsCAA (p.Asn840=)
c.1446_1448delinsCAA (p.Asn482=)
n.2501_2503delinsCAA
1g.151406388T>ACA341949746POGZc.2695A>T (p.Lys899Ter)
c.2488A>T (p.Lys830Ter)
c.2647A>T (p.Lys883Ter)
c.2668A>T (p.Lys890Ter)
n.2795A>T
c.2362A>T (p.Lys788Ter)
c.2620A>T (p.Lys874Ter)
c.2515A>T (p.Lys839Ter)
c.847A>T (p.Lys283Ter)
c.2461A>T (p.Lys821Ter)
c.2539A>T (p.Lys847Ter)
c.2290A>T (p.Lys764Ter)
c.2521A>T (p.Lys841Ter)
c.1447A>T (p.Lys483Ter)
n.2502A>T
1g.151406388T>CCA341949748POGZc.2695A>G (p.Lys899Glu)
c.2488A>G (p.Lys830Glu)
c.2647A>G (p.Lys883Glu)
c.2668A>G (p.Lys890Glu)
n.2795A>G
c.2362A>G (p.Lys788Glu)
c.2620A>G (p.Lys874Glu)
c.2515A>G (p.Lys839Glu)
c.847A>G (p.Lys283Glu)
c.2461A>G (p.Lys821Glu)
c.2539A>G (p.Lys847Glu)
c.2290A>G (p.Lys764Glu)
c.2521A>G (p.Lys841Glu)
c.1447A>G (p.Lys483Glu)
n.2502A>G
 gnomAD v4
1g.151406388T>GCA341949751POGZc.2695A>C (p.Lys899Gln)
c.2488A>C (p.Lys830Gln)
c.2647A>C (p.Lys883Gln)
c.2668A>C (p.Lys890Gln)
n.2795A>C
c.2362A>C (p.Lys788Gln)
c.2620A>C (p.Lys874Gln)
c.2515A>C (p.Lys839Gln)
c.847A>C (p.Lys283Gln)
c.2461A>C (p.Lys821Gln)
c.2539A>C (p.Lys847Gln)
c.2290A>C (p.Lys764Gln)
c.2521A>C (p.Lys841Gln)
c.1447A>C (p.Lys483Gln)
n.2502A>C
1g.151406389_151406390delCA658821141POGZc.2694_2695del (p.Asn898LysfsTer14)
c.2487_2488del (p.Asn829LysfsTer14)
c.2646_2647del (p.Asn882LysfsTer14)
c.2667_2668del (p.Asn889LysfsTer14)
n.2794_2795del
c.2361_2362del (p.Asn787LysfsTer14)
c.2619_2620del (p.Asn873LysfsTer14)
c.2514_2515del (p.Asn838LysfsTer14)
c.846_847del (p.Asn282LysfsTer14)
c.2460_2461del (p.Asn820LysfsTer14)
c.2538_2539del (p.Asn846LysfsTer14)
c.2289_2290del (p.Asn763LysfsTer14)
c.2520_2521del (p.Asn840LysfsTer14)
c.1446_1447del (p.Asn482LysfsTer14)
n.2501_2502del
 ClinVar dbSNP
1g.151406389G>ACA420909767POGZc.2694C>T (p.Asn898=)
c.2487C>T (p.Asn829=)
c.2646C>T (p.Asn882=)
c.2667C>T (p.Asn889=)
n.2794C>T
c.2361C>T (p.Asn787=)
c.2619C>T (p.Asn873=)
c.2514C>T (p.Asn838=)
c.846C>T (p.Asn282=)
c.2460C>T (p.Asn820=)
c.2538C>T (p.Asn846=)
c.2289C>T (p.Asn763=)
n.2474C>T
c.2520C>T (p.Asn840=)
c.1446C>T (p.Asn482=)
n.2501C>T
1g.151406389G>CCA341949759POGZc.2694C>G (p.Asn898Lys)
c.2487C>G (p.Asn829Lys)
c.2646C>G (p.Asn882Lys)
c.2667C>G (p.Asn889Lys)
n.2794C>G
c.2361C>G (p.Asn787Lys)
c.2619C>G (p.Asn873Lys)
c.2514C>G (p.Asn838Lys)
c.846C>G (p.Asn282Lys)
c.2460C>G (p.Asn820Lys)
c.2538C>G (p.Asn846Lys)
c.2289C>G (p.Asn763Lys)
n.2474C>G
c.2520C>G (p.Asn840Lys)
c.1446C>G (p.Asn482Lys)
n.2501C>G
1g.151406389G>TCA341949761POGZc.2694C>A (p.Asn898Lys)
c.2487C>A (p.Asn829Lys)
c.2646C>A (p.Asn882Lys)
c.2667C>A (p.Asn889Lys)
n.2794C>A
c.2361C>A (p.Asn787Lys)
c.2619C>A (p.Asn873Lys)
c.2514C>A (p.Asn838Lys)
c.846C>A (p.Asn282Lys)
c.2460C>A (p.Asn820Lys)
c.2538C>A (p.Asn846Lys)
c.2289C>A (p.Asn763Lys)
n.2474C>A
c.2520C>A (p.Asn840Lys)
c.1446C>A (p.Asn482Lys)
n.2501C>A
1g.151406390T>ACA341949774POGZc.2693A>T (p.Asn898Ile)
c.2486A>T (p.Asn829Ile)
c.2645A>T (p.Asn882Ile)
c.2666A>T (p.Asn889Ile)
n.2793A>T
c.2360A>T (p.Asn787Ile)
c.2618A>T (p.Asn873Ile)
c.2513A>T (p.Asn838Ile)
c.845A>T (p.Asn282Ile)
c.2459A>T (p.Asn820Ile)
c.2537A>T (p.Asn846Ile)
c.2288A>T (p.Asn763Ile)
n.2473A>T
c.2519A>T (p.Asn840Ile)
c.1445A>T (p.Asn482Ile)
n.2500A>T
1g.151406390T>CCA341949771POGZc.2693A>G (p.Asn898Ser)
c.2486A>G (p.Asn829Ser)
c.2645A>G (p.Asn882Ser)
c.2666A>G (p.Asn889Ser)
n.2793A>G
c.2360A>G (p.Asn787Ser)
c.2618A>G (p.Asn873Ser)
c.2513A>G (p.Asn838Ser)
c.845A>G (p.Asn282Ser)
c.2459A>G (p.Asn820Ser)
c.2537A>G (p.Asn846Ser)
c.2288A>G (p.Asn763Ser)
n.2473A>G
c.2519A>G (p.Asn840Ser)
c.1445A>G (p.Asn482Ser)
n.2500A>G
1g.151406390T>GCA341949768POGZc.2693A>C (p.Asn898Thr)
c.2486A>C (p.Asn829Thr)
c.2645A>C (p.Asn882Thr)
c.2666A>C (p.Asn889Thr)
n.2793A>C
c.2360A>C (p.Asn787Thr)
c.2618A>C (p.Asn873Thr)
c.2513A>C (p.Asn838Thr)
c.845A>C (p.Asn282Thr)
c.2459A>C (p.Asn820Thr)
c.2537A>C (p.Asn846Thr)
c.2288A>C (p.Asn763Thr)
n.2473A>C
c.2519A>C (p.Asn840Thr)
c.1445A>C (p.Asn482Thr)
n.2500A>C
1g.151406391T>ACA341949779POGZc.2692A>T (p.Asn898Tyr)
c.2485A>T (p.Asn829Tyr)
c.2644A>T (p.Asn882Tyr)
c.2665A>T (p.Asn889Tyr)
n.2792A>T
c.2359A>T (p.Asn787Tyr)
c.2617A>T (p.Asn873Tyr)
c.2512A>T (p.Asn838Tyr)
c.844A>T (p.Asn282Tyr)
c.2458A>T (p.Asn820Tyr)
c.2536A>T (p.Asn846Tyr)
c.2287A>T (p.Asn763Tyr)
n.2472A>T
c.2518A>T (p.Asn840Tyr)
c.1444A>T (p.Asn482Tyr)
n.2499A>T
1g.151406391T>CCA341949781POGZc.2692A>G (p.Asn898Asp)
c.2485A>G (p.Asn829Asp)
c.2644A>G (p.Asn882Asp)
c.2665A>G (p.Asn889Asp)
n.2792A>G
c.2359A>G (p.Asn787Asp)
c.2617A>G (p.Asn873Asp)
c.2512A>G (p.Asn838Asp)
c.844A>G (p.Asn282Asp)
c.2458A>G (p.Asn820Asp)
c.2536A>G (p.Asn846Asp)
c.2287A>G (p.Asn763Asp)
n.2472A>G
c.2518A>G (p.Asn840Asp)
c.1444A>G (p.Asn482Asp)
n.2499A>G
1g.151406391T>GCA341949782POGZc.2692A>C (p.Asn898His)
c.2485A>C (p.Asn829His)
c.2644A>C (p.Asn882His)
c.2665A>C (p.Asn889His)
n.2792A>C
c.2359A>C (p.Asn787His)
c.2617A>C (p.Asn873His)
c.2512A>C (p.Asn838His)
c.844A>C (p.Asn282His)
c.2458A>C (p.Asn820His)
c.2536A>C (p.Asn846His)
c.2287A>C (p.Asn763His)
n.2472A>C
c.2518A>C (p.Asn840His)
c.1444A>C (p.Asn482His)
n.2499A>C
1g.151406392A=CA2479570639POGZc.2691T= (p.Thr897=)
c.2484T= (p.Thr828=)
c.2643T= (p.Thr881=)
c.2664T= (p.Thr888=)
n.2791T=
c.2358T= (p.Thr786=)
c.2616T= (p.Thr872=)
c.2511T= (p.Thr837=)
c.843T= (p.Thr281=)
c.2457T= (p.Thr819=)
c.2535T= (p.Thr845=)
c.2286T= (p.Thr762=)
n.2471T=
c.2517T= (p.Thr839=)
c.1443T= (p.Thr481=)
n.2498T=
1g.151406392A>CCA420909775POGZc.2691T>G (p.Thr897=)
c.2484T>G (p.Thr828=)
c.2643T>G (p.Thr881=)
c.2664T>G (p.Thr888=)
n.2791T>G
c.2358T>G (p.Thr786=)
c.2616T>G (p.Thr872=)
c.2511T>G (p.Thr837=)
c.843T>G (p.Thr281=)
c.2457T>G (p.Thr819=)
c.2535T>G (p.Thr845=)
c.2286T>G (p.Thr762=)
n.2471T>G
c.2517T>G (p.Thr839=)
c.1443T>G (p.Thr481=)
n.2498T>G
1g.151406392A>GCA420909776POGZc.2691T>C (p.Thr897=)
c.2484T>C (p.Thr828=)
c.2643T>C (p.Thr881=)
c.2664T>C (p.Thr888=)
n.2791T>C
c.2358T>C (p.Thr786=)
c.2616T>C (p.Thr872=)
c.2511T>C (p.Thr837=)
c.843T>C (p.Thr281=)
c.2457T>C (p.Thr819=)
c.2535T>C (p.Thr845=)
c.2286T>C (p.Thr762=)
n.2471T>C
c.2517T>C (p.Thr839=)
c.1443T>C (p.Thr481=)
n.2498T>C
 gnomAD v4
1g.151406392A>TCA420909777POGZc.2691T>A (p.Thr897=)
c.2484T>A (p.Thr828=)
c.2643T>A (p.Thr881=)
c.2664T>A (p.Thr888=)
n.2791T>A
c.2358T>A (p.Thr786=)
c.2616T>A (p.Thr872=)
c.2511T>A (p.Thr837=)
c.843T>A (p.Thr281=)
c.2457T>A (p.Thr819=)
c.2535T>A (p.Thr845=)
c.2286T>A (p.Thr762=)
n.2471T>A
c.2517T>A (p.Thr839=)
c.1443T>A (p.Thr481=)
n.2498T>A
 dbSNP
1g.151406393G>ACA341949788POGZc.2690C>T (p.Thr897Ile)
c.2483C>T (p.Thr828Ile)
c.2642C>T (p.Thr881Ile)
c.2663C>T (p.Thr888Ile)
n.2790C>T
c.2357C>T (p.Thr786Ile)
c.2615C>T (p.Thr872Ile)
c.2510C>T (p.Thr837Ile)
c.842C>T (p.Thr281Ile)
c.2456C>T (p.Thr819Ile)
c.2534C>T (p.Thr845Ile)
c.2285C>T (p.Thr762Ile)
n.2470C>T
c.2516C>T (p.Thr839Ile)
c.1442C>T (p.Thr481Ile)
n.2497C>T
 gnomAD v4
1g.151406393G>CCA341949790POGZc.2690C>G (p.Thr897Ser)
c.2483C>G (p.Thr828Ser)
c.2642C>G (p.Thr881Ser)
c.2663C>G (p.Thr888Ser)
n.2790C>G
c.2357C>G (p.Thr786Ser)
c.2615C>G (p.Thr872Ser)
c.2510C>G (p.Thr837Ser)
c.842C>G (p.Thr281Ser)
c.2456C>G (p.Thr819Ser)
c.2534C>G (p.Thr845Ser)
c.2285C>G (p.Thr762Ser)
n.2470C>G
c.2516C>G (p.Thr839Ser)
c.1442C>G (p.Thr481Ser)
n.2497C>G
1g.151406393G>TCA341949794POGZc.2690C>A (p.Thr897Asn)
c.2483C>A (p.Thr828Asn)
c.2642C>A (p.Thr881Asn)
c.2663C>A (p.Thr888Asn)
n.2790C>A
c.2357C>A (p.Thr786Asn)
c.2615C>A (p.Thr872Asn)
c.2510C>A (p.Thr837Asn)
c.842C>A (p.Thr281Asn)
c.2456C>A (p.Thr819Asn)
c.2534C>A (p.Thr845Asn)
c.2285C>A (p.Thr762Asn)
n.2470C>A
c.2516C>A (p.Thr839Asn)
c.1442C>A (p.Thr481Asn)
n.2497C>A
1g.151406393_151406394delinsGTCA2479570640POGZc.2689_2690delinsAC (p.Thr897=)
c.2482_2483delinsAC (p.Thr828=)
c.2641_2642delinsAC (p.Thr881=)
c.2662_2663delinsAC (p.Thr888=)
n.2789_2790delinsAC
c.2356_2357delinsAC (p.Thr786=)
c.2614_2615delinsAC (p.Thr872=)
c.2509_2510delinsAC (p.Thr837=)
c.841_842delinsAC (p.Thr281=)
c.2455_2456delinsAC (p.Thr819=)
c.2533_2534delinsAC (p.Thr845=)
c.2284_2285delinsAC (p.Thr762=)
n.2469_2470delinsAC
c.2515_2516delinsAC (p.Thr839=)
c.1441_1442delinsAC (p.Thr481=)
n.2496_2497delinsAC
1g.151406394delCA319615POGZc.2689del (p.Thr897LeufsTer7)
c.2482del (p.Thr828LeufsTer7)
c.2641del (p.Thr881LeufsTer7)
c.2662del (p.Thr888LeufsTer7)
n.2789del
c.2356del (p.Thr786LeufsTer7)
c.2614del (p.Thr872LeufsTer7)
c.2509del (p.Thr837LeufsTer7)
c.841del (p.Thr281LeufsTer7)
c.2455del (p.Thr819LeufsTer7)
c.2533del (p.Thr845LeufsTer7)
c.2284del (p.Thr762LeufsTer7)
n.2469del
c.2515del (p.Thr839LeufsTer7)
c.1441del (p.Thr481LeufsTer7)
n.2496del
 ClinVar dbSNP
1g.151406394T>ACA341949807POGZc.2689A>T (p.Thr897Ser)
c.2482A>T (p.Thr828Ser)
c.2641A>T (p.Thr881Ser)
c.2662A>T (p.Thr888Ser)
n.2789A>T
c.2356A>T (p.Thr786Ser)
c.2614A>T (p.Thr872Ser)
c.2509A>T (p.Thr837Ser)
c.841A>T (p.Thr281Ser)
c.2455A>T (p.Thr819Ser)
c.2533A>T (p.Thr845Ser)
c.2284A>T (p.Thr762Ser)
n.2469A>T
c.2515A>T (p.Thr839Ser)
c.1441A>T (p.Thr481Ser)
n.2496A>T
1g.151406394T>CCA341949800POGZc.2689A>G (p.Thr897Ala)
c.2482A>G (p.Thr828Ala)
c.2641A>G (p.Thr881Ala)
c.2662A>G (p.Thr888Ala)
n.2789A>G
c.2356A>G (p.Thr786Ala)
c.2614A>G (p.Thr872Ala)
c.2509A>G (p.Thr837Ala)
c.841A>G (p.Thr281Ala)
c.2455A>G (p.Thr819Ala)
c.2533A>G (p.Thr845Ala)
c.2284A>G (p.Thr762Ala)
n.2469A>G
c.2515A>G (p.Thr839Ala)
c.1441A>G (p.Thr481Ala)
n.2496A>G
 dbSNP gnomAD v4
1g.151406394T>GCA341949803POGZc.2689A>C (p.Thr897Pro)
c.2482A>C (p.Thr828Pro)
c.2641A>C (p.Thr881Pro)
c.2662A>C (p.Thr888Pro)
n.2789A>C
c.2356A>C (p.Thr786Pro)
c.2614A>C (p.Thr872Pro)
c.2509A>C (p.Thr837Pro)
c.841A>C (p.Thr281Pro)
c.2455A>C (p.Thr819Pro)
c.2533A>C (p.Thr845Pro)
c.2284A>C (p.Thr762Pro)
n.2469A>C
c.2515A>C (p.Thr839Pro)
c.1441A>C (p.Thr481Pro)
n.2496A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406394T=CA2479570641POGZc.2689A= (p.Thr897=)
c.2482A= (p.Thr828=)
c.2641A= (p.Thr881=)
c.2662A= (p.Thr888=)
n.2789A=
c.2356A= (p.Thr786=)
c.2614A= (p.Thr872=)
c.2509A= (p.Thr837=)
c.841A= (p.Thr281=)
c.2455A= (p.Thr819=)
c.2533A= (p.Thr845=)
c.2284A= (p.Thr762=)
n.2469A=
c.2515A= (p.Thr839=)
c.1441A= (p.Thr481=)
n.2496A=
1g.151406395G>ACA420909782POGZc.2688C>T (p.Pro896=)
c.2481C>T (p.Pro827=)
c.2640C>T (p.Pro880=)
c.2661C>T (p.Pro887=)
n.2788C>T
c.2355C>T (p.Pro785=)
c.2613C>T (p.Pro871=)
c.2508C>T (p.Pro836=)
c.840C>T (p.Pro280=)
c.2454C>T (p.Pro818=)
c.2532C>T (p.Pro844=)
c.2283C>T (p.Pro761=)
n.2468C>T
c.2514C>T (p.Pro838=)
c.1440C>T (p.Pro480=)
n.2495C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406395G>CCA420909784POGZc.2688C>G (p.Pro896=)
c.2481C>G (p.Pro827=)
c.2640C>G (p.Pro880=)
c.2661C>G (p.Pro887=)
n.2788C>G
c.2355C>G (p.Pro785=)
c.2613C>G (p.Pro871=)
c.2508C>G (p.Pro836=)
c.840C>G (p.Pro280=)
c.2454C>G (p.Pro818=)
c.2532C>G (p.Pro844=)
c.2283C>G (p.Pro761=)
n.2468C>G
c.2514C>G (p.Pro838=)
c.1440C>G (p.Pro480=)
n.2495C>G
1g.151406395G=CA2479570642POGZc.2688C= (p.Pro896=)
c.2481C= (p.Pro827=)
c.2640C= (p.Pro880=)
c.2661C= (p.Pro887=)
n.2788C=
c.2355C= (p.Pro785=)
c.2613C= (p.Pro871=)
c.2508C= (p.Pro836=)
c.840C= (p.Pro280=)
c.2454C= (p.Pro818=)
c.2532C= (p.Pro844=)
c.2283C= (p.Pro761=)
n.2468C=
c.2514C= (p.Pro838=)
c.1440C= (p.Pro480=)
n.2495C=
1g.151406395G>TCA420909790POGZc.2688C>A (p.Pro896=)
c.2481C>A (p.Pro827=)
c.2640C>A (p.Pro880=)
c.2661C>A (p.Pro887=)
n.2788C>A
c.2355C>A (p.Pro785=)
c.2613C>A (p.Pro871=)
c.2508C>A (p.Pro836=)
c.840C>A (p.Pro280=)
c.2454C>A (p.Pro818=)
c.2532C>A (p.Pro844=)
c.2283C>A (p.Pro761=)
n.2468C>A
c.2514C>A (p.Pro838=)
c.1440C>A (p.Pro480=)
n.2495C>A
1g.151406396G>ACA341949812POGZc.2687C>T (p.Pro896Leu)
c.2480C>T (p.Pro827Leu)
c.2639C>T (p.Pro880Leu)
c.2660C>T (p.Pro887Leu)
n.2787C>T
c.2354C>T (p.Pro785Leu)
c.2612C>T (p.Pro871Leu)
c.2507C>T (p.Pro836Leu)
c.839C>T (p.Pro280Leu)
c.2453C>T (p.Pro818Leu)
c.2531C>T (p.Pro844Leu)
c.2282C>T (p.Pro761Leu)
n.2467C>T
c.2513C>T (p.Pro838Leu)
c.1439C>T (p.Pro480Leu)
n.2494C>T
1g.151406396G>CCA341949815POGZc.2687C>G (p.Pro896Arg)
c.2480C>G (p.Pro827Arg)
c.2639C>G (p.Pro880Arg)
c.2660C>G (p.Pro887Arg)
n.2787C>G
c.2354C>G (p.Pro785Arg)
c.2612C>G (p.Pro871Arg)
c.2507C>G (p.Pro836Arg)
c.839C>G (p.Pro280Arg)
c.2453C>G (p.Pro818Arg)
c.2531C>G (p.Pro844Arg)
c.2282C>G (p.Pro761Arg)
n.2467C>G
c.2513C>G (p.Pro838Arg)
c.1439C>G (p.Pro480Arg)
n.2494C>G
1g.151406396G>TCA341949818POGZc.2687C>A (p.Pro896His)
c.2480C>A (p.Pro827His)
c.2639C>A (p.Pro880His)
c.2660C>A (p.Pro887His)
n.2787C>A
c.2354C>A (p.Pro785His)
c.2612C>A (p.Pro871His)
c.2507C>A (p.Pro836His)
c.839C>A (p.Pro280His)
c.2453C>A (p.Pro818His)
c.2531C>A (p.Pro844His)
c.2282C>A (p.Pro761His)
n.2467C>A
c.2513C>A (p.Pro838His)
c.1439C>A (p.Pro480His)
n.2494C>A
1g.151406397G>ACA341949823POGZc.2686C>T (p.Pro896Ser)
c.2479C>T (p.Pro827Ser)
c.2638C>T (p.Pro880Ser)
c.2659C>T (p.Pro887Ser)
n.2786C>T
c.2353C>T (p.Pro785Ser)
c.2611C>T (p.Pro871Ser)
c.2506C>T (p.Pro836Ser)
c.838C>T (p.Pro280Ser)
c.2452C>T (p.Pro818Ser)
c.2530C>T (p.Pro844Ser)
c.2281C>T (p.Pro761Ser)
n.2466C>T
c.2512C>T (p.Pro838Ser)
c.1438C>T (p.Pro480Ser)
n.2493C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406397G>CCA341949825POGZc.2686C>G (p.Pro896Ala)
c.2479C>G (p.Pro827Ala)
c.2638C>G (p.Pro880Ala)
c.2659C>G (p.Pro887Ala)
n.2786C>G
c.2353C>G (p.Pro785Ala)
c.2611C>G (p.Pro871Ala)
c.2506C>G (p.Pro836Ala)
c.838C>G (p.Pro280Ala)
c.2452C>G (p.Pro818Ala)
c.2530C>G (p.Pro844Ala)
c.2281C>G (p.Pro761Ala)
n.2466C>G
c.2512C>G (p.Pro838Ala)
c.1438C>G (p.Pro480Ala)
n.2493C>G
1g.151406397G=CA2479570643POGZc.2686C= (p.Pro896=)
c.2479C= (p.Pro827=)
c.2638C= (p.Pro880=)
c.2659C= (p.Pro887=)
n.2786C=
c.2353C= (p.Pro785=)
c.2611C= (p.Pro871=)
c.2506C= (p.Pro836=)
c.838C= (p.Pro280=)
c.2452C= (p.Pro818=)
c.2530C= (p.Pro844=)
c.2281C= (p.Pro761=)
n.2466C=
c.2512C= (p.Pro838=)
c.1438C= (p.Pro480=)
n.2493C=
1g.151406397G>TCA341949828POGZc.2686C>A (p.Pro896Thr)
c.2479C>A (p.Pro827Thr)
c.2638C>A (p.Pro880Thr)
c.2659C>A (p.Pro887Thr)
n.2786C>A
c.2353C>A (p.Pro785Thr)
c.2611C>A (p.Pro871Thr)
c.2506C>A (p.Pro836Thr)
c.838C>A (p.Pro280Thr)
c.2452C>A (p.Pro818Thr)
c.2530C>A (p.Pro844Thr)
c.2281C>A (p.Pro761Thr)
n.2466C>A
c.2512C>A (p.Pro838Thr)
c.1438C>A (p.Pro480Thr)
n.2493C>A
1g.151406404_151406407delCA2580611486POGZc.2683_2686del (p.Phe895ProfsTer8)
c.2476_2479del (p.Phe826ProfsTer8)
c.2635_2638del (p.Phe879ProfsTer8)
c.2656_2659del (p.Phe886ProfsTer8)
n.2783_2786del
c.2350_2353del (p.Phe784ProfsTer8)
c.2608_2611del (p.Phe870ProfsTer8)
c.2503_2506del (p.Phe835ProfsTer8)
c.835_838del (p.Phe279ProfsTer8)
c.2449_2452del (p.Phe817ProfsTer8)
c.2527_2530del (p.Phe843ProfsTer8)
c.2278_2281del (p.Phe760ProfsTer8)
n.2463_2466del
c.2509_2512del (p.Phe837ProfsTer8)
c.1435_1438del (p.Phe479ProfsTer8)
n.2490_2493del
 ClinVar dbSNP
1g.151406398G>ACA420909792POGZc.2685C>T (p.Phe895=)
c.2478C>T (p.Phe826=)
c.2637C>T (p.Phe879=)
c.2658C>T (p.Phe886=)
n.2785C>T
c.2352C>T (p.Phe784=)
c.2610C>T (p.Phe870=)
c.2505C>T (p.Phe835=)
c.837C>T (p.Phe279=)
c.2451C>T (p.Phe817=)
c.2529C>T (p.Phe843=)
c.2280C>T (p.Phe760=)
n.2465C>T
c.2511C>T (p.Phe837=)
c.1437C>T (p.Phe479=)
n.2492C>T
 gnomAD v4
1g.151406398G>CCA341949832POGZc.2685C>G (p.Phe895Leu)
c.2478C>G (p.Phe826Leu)
c.2637C>G (p.Phe879Leu)
c.2658C>G (p.Phe886Leu)
n.2785C>G
c.2352C>G (p.Phe784Leu)
c.2610C>G (p.Phe870Leu)
c.2505C>G (p.Phe835Leu)
c.837C>G (p.Phe279Leu)
c.2451C>G (p.Phe817Leu)
c.2529C>G (p.Phe843Leu)
c.2280C>G (p.Phe760Leu)
n.2465C>G
c.2511C>G (p.Phe837Leu)
c.1437C>G (p.Phe479Leu)
n.2492C>G
1g.151406398G=CA2479570644POGZc.2685C= (p.Phe895=)
c.2478C= (p.Phe826=)
c.2637C= (p.Phe879=)
c.2658C= (p.Phe886=)
n.2785C=
c.2352C= (p.Phe784=)
c.2610C= (p.Phe870=)
c.2505C= (p.Phe835=)
c.837C= (p.Phe279=)
c.2451C= (p.Phe817=)
c.2529C= (p.Phe843=)
c.2280C= (p.Phe760=)
n.2465C=
c.2511C= (p.Phe837=)
c.1437C= (p.Phe479=)
n.2492C=
1g.151406398G>TCA29569487POGZc.2685C>A (p.Phe895Leu)
c.2478C>A (p.Phe826Leu)
c.2637C>A (p.Phe879Leu)
c.2658C>A (p.Phe886Leu)
n.2785C>A
c.2352C>A (p.Phe784Leu)
c.2610C>A (p.Phe870Leu)
c.2505C>A (p.Phe835Leu)
c.837C>A (p.Phe279Leu)
c.2451C>A (p.Phe817Leu)
c.2529C>A (p.Phe843Leu)
c.2280C>A (p.Phe760Leu)
n.2465C>A
c.2511C>A (p.Phe837Leu)
c.1437C>A (p.Phe479Leu)
n.2492C>A
 dbSNP
1g.151406399A=CA2479570645POGZc.2684T= (p.Phe895=)
c.2477T= (p.Phe826=)
c.2636T= (p.Phe879=)
c.2657T= (p.Phe886=)
n.2784T=
c.2351T= (p.Phe784=)
c.2609T= (p.Phe870=)
c.2504T= (p.Phe835=)
c.836T= (p.Phe279=)
c.2450T= (p.Phe817=)
c.2528T= (p.Phe843=)
c.2279T= (p.Phe760=)
n.2464T=
c.2510T= (p.Phe837=)
c.1436T= (p.Phe479=)
n.2491T=
1g.151406399A>CCA341949838POGZc.2684T>G (p.Phe895Cys)
c.2477T>G (p.Phe826Cys)
c.2636T>G (p.Phe879Cys)
c.2657T>G (p.Phe886Cys)
n.2784T>G
c.2351T>G (p.Phe784Cys)
c.2609T>G (p.Phe870Cys)
c.2504T>G (p.Phe835Cys)
c.836T>G (p.Phe279Cys)
c.2450T>G (p.Phe817Cys)
c.2528T>G (p.Phe843Cys)
c.2279T>G (p.Phe760Cys)
n.2464T>G
c.2510T>G (p.Phe837Cys)
c.1436T>G (p.Phe479Cys)
n.2491T>G
1g.151406399A>GCA341949840POGZc.2684T>C (p.Phe895Ser)
c.2477T>C (p.Phe826Ser)
c.2636T>C (p.Phe879Ser)
c.2657T>C (p.Phe886Ser)
n.2784T>C
c.2351T>C (p.Phe784Ser)
c.2609T>C (p.Phe870Ser)
c.2504T>C (p.Phe835Ser)
c.836T>C (p.Phe279Ser)
c.2450T>C (p.Phe817Ser)
c.2528T>C (p.Phe843Ser)
c.2279T>C (p.Phe760Ser)
n.2464T>C
c.2510T>C (p.Phe837Ser)
c.1436T>C (p.Phe479Ser)
n.2491T>C
 dbSNP
1g.151406399A>TCA341949841POGZc.2684T>A (p.Phe895Tyr)
c.2477T>A (p.Phe826Tyr)
c.2636T>A (p.Phe879Tyr)
c.2657T>A (p.Phe886Tyr)
n.2784T>A
c.2351T>A (p.Phe784Tyr)
c.2609T>A (p.Phe870Tyr)
c.2504T>A (p.Phe835Tyr)
c.836T>A (p.Phe279Tyr)
c.2450T>A (p.Phe817Tyr)
c.2528T>A (p.Phe843Tyr)
c.2279T>A (p.Phe760Tyr)
n.2464T>A
c.2510T>A (p.Phe837Tyr)
c.1436T>A (p.Phe479Tyr)
n.2491T>A
1g.151406400A>CCA341949847POGZc.2683T>G (p.Phe895Val)
c.2476T>G (p.Phe826Val)
c.2635T>G (p.Phe879Val)
c.2656T>G (p.Phe886Val)
n.2783T>G
c.2350T>G (p.Phe784Val)
c.2608T>G (p.Phe870Val)
c.2503T>G (p.Phe835Val)
c.835T>G (p.Phe279Val)
c.2449T>G (p.Phe817Val)
c.2527T>G (p.Phe843Val)
c.2278T>G (p.Phe760Val)
n.2463T>G
c.2509T>G (p.Phe837Val)
c.1435T>G (p.Phe479Val)
n.2490T>G
1g.151406400A>GCA341949849POGZc.2683T>C (p.Phe895Leu)
c.2476T>C (p.Phe826Leu)
c.2635T>C (p.Phe879Leu)
c.2656T>C (p.Phe886Leu)
n.2783T>C
c.2350T>C (p.Phe784Leu)
c.2608T>C (p.Phe870Leu)
c.2503T>C (p.Phe835Leu)
c.835T>C (p.Phe279Leu)
c.2449T>C (p.Phe817Leu)
c.2527T>C (p.Phe843Leu)
c.2278T>C (p.Phe760Leu)
n.2463T>C
c.2509T>C (p.Phe837Leu)
c.1435T>C (p.Phe479Leu)
n.2490T>C
1g.151406400A>TCA341949848POGZc.2683T>A (p.Phe895Ile)
c.2476T>A (p.Phe826Ile)
c.2635T>A (p.Phe879Ile)
c.2656T>A (p.Phe886Ile)
n.2783T>A
c.2350T>A (p.Phe784Ile)
c.2608T>A (p.Phe870Ile)
c.2503T>A (p.Phe835Ile)
c.835T>A (p.Phe279Ile)
c.2449T>A (p.Phe817Ile)
c.2527T>A (p.Phe843Ile)
c.2278T>A (p.Phe760Ile)
n.2463T>A
c.2509T>A (p.Phe837Ile)
c.1435T>A (p.Phe479Ile)
n.2490T>A
1g.151406401G>ACA420909804POGZc.2682C>T (p.Ser894=)
c.2475C>T (p.Ser825=)
c.2634C>T (p.Ser878=)
c.2655C>T (p.Ser885=)
n.2782C>T
c.2349C>T (p.Ser783=)
c.2607C>T (p.Ser869=)
c.2502C>T (p.Ser834=)
c.834C>T (p.Ser278=)
c.2448C>T (p.Ser816=)
c.2526C>T (p.Ser842=)
c.2277C>T (p.Ser759=)
n.2462C>T
c.2508C>T (p.Ser836=)
c.1434C>T (p.Ser478=)
n.2489C>T
 dbSNP gnomAD v4
1g.151406401G>CCA1091088POGZc.2682C>G (p.Ser894=)
c.2475C>G (p.Ser825=)
c.2634C>G (p.Ser878=)
c.2655C>G (p.Ser885=)
n.2782C>G
c.2349C>G (p.Ser783=)
c.2607C>G (p.Ser869=)
c.2502C>G (p.Ser834=)
c.834C>G (p.Ser278=)
c.2448C>G (p.Ser816=)
c.2526C>G (p.Ser842=)
c.2277C>G (p.Ser759=)
n.2462C>G
c.2508C>G (p.Ser836=)
c.1434C>G (p.Ser478=)
n.2489C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406401G=CA1141642798POGZc.2682C= (p.Ser894=)
c.2475C= (p.Ser825=)
c.2634C= (p.Ser878=)
c.2655C= (p.Ser885=)
n.2782C=
c.2349C= (p.Ser783=)
c.2607C= (p.Ser869=)
c.2502C= (p.Ser834=)
c.834C= (p.Ser278=)
c.2448C= (p.Ser816=)
c.2526C= (p.Ser842=)
c.2277C= (p.Ser759=)
n.2462C=
c.2508C= (p.Ser836=)
c.1434C= (p.Ser478=)
n.2489C=
1g.151406401G>TCA420909805POGZc.2682C>A (p.Ser894=)
c.2475C>A (p.Ser825=)
c.2634C>A (p.Ser878=)
c.2655C>A (p.Ser885=)
n.2782C>A
c.2349C>A (p.Ser783=)
c.2607C>A (p.Ser869=)
c.2502C>A (p.Ser834=)
c.834C>A (p.Ser278=)
c.2448C>A (p.Ser816=)
c.2526C>A (p.Ser842=)
c.2277C>A (p.Ser759=)
n.2462C>A
c.2508C>A (p.Ser836=)
c.1434C>A (p.Ser478=)
n.2489C>A
 gnomAD v4
1g.151406402G>ACA341949856POGZc.2681C>T (p.Ser894Phe)
c.2474C>T (p.Ser825Phe)
c.2633C>T (p.Ser878Phe)
c.2654C>T (p.Ser885Phe)
n.2781C>T
c.2348C>T (p.Ser783Phe)
c.2606C>T (p.Ser869Phe)
c.2501C>T (p.Ser834Phe)
c.833C>T (p.Ser278Phe)
c.2447C>T (p.Ser816Phe)
c.2525C>T (p.Ser842Phe)
c.2276C>T (p.Ser759Phe)
n.2461C>T
c.2507C>T (p.Ser836Phe)
c.1433C>T (p.Ser478Phe)
n.2488C>T
 gnomAD v4
1g.151406402G>CCA341949857POGZc.2681C>G (p.Ser894Cys)
c.2474C>G (p.Ser825Cys)
c.2633C>G (p.Ser878Cys)
c.2654C>G (p.Ser885Cys)
n.2781C>G
c.2348C>G (p.Ser783Cys)
c.2606C>G (p.Ser869Cys)
c.2501C>G (p.Ser834Cys)
c.833C>G (p.Ser278Cys)
c.2447C>G (p.Ser816Cys)
c.2525C>G (p.Ser842Cys)
c.2276C>G (p.Ser759Cys)
n.2461C>G
c.2507C>G (p.Ser836Cys)
c.1433C>G (p.Ser478Cys)
n.2488C>G
 gnomAD v4
1g.151406402G>TCA341949858POGZc.2681C>A (p.Ser894Tyr)
c.2474C>A (p.Ser825Tyr)
c.2633C>A (p.Ser878Tyr)
c.2654C>A (p.Ser885Tyr)
n.2781C>A
c.2348C>A (p.Ser783Tyr)
c.2606C>A (p.Ser869Tyr)
c.2501C>A (p.Ser834Tyr)
c.833C>A (p.Ser278Tyr)
c.2447C>A (p.Ser816Tyr)
c.2525C>A (p.Ser842Tyr)
c.2276C>A (p.Ser759Tyr)
n.2461C>A
c.2507C>A (p.Ser836Tyr)
c.1433C>A (p.Ser478Tyr)
n.2488C>A
 gnomAD v4
1g.151406403A=CA2479570646POGZc.2680T= (p.Ser894=)
c.2473T= (p.Ser825=)
c.2632T= (p.Ser878=)
c.2653T= (p.Ser885=)
n.2780T=
c.2347T= (p.Ser783=)
c.2605T= (p.Ser869=)
c.2500T= (p.Ser834=)
c.832T= (p.Ser278=)
c.2446T= (p.Ser816=)
c.2524T= (p.Ser842=)
c.2275T= (p.Ser759=)
n.2460T=
c.2506T= (p.Ser836=)
c.1432T= (p.Ser478=)
n.2487T=
1g.151406403A>CCA341949862POGZc.2680T>G (p.Ser894Ala)
c.2473T>G (p.Ser825Ala)
c.2632T>G (p.Ser878Ala)
c.2653T>G (p.Ser885Ala)
n.2780T>G
c.2347T>G (p.Ser783Ala)
c.2605T>G (p.Ser869Ala)
c.2500T>G (p.Ser834Ala)
c.832T>G (p.Ser278Ala)
c.2446T>G (p.Ser816Ala)
c.2524T>G (p.Ser842Ala)
c.2275T>G (p.Ser759Ala)
n.2460T>G
c.2506T>G (p.Ser836Ala)
c.1432T>G (p.Ser478Ala)
n.2487T>G
1g.151406403A>GCA29569503POGZc.2680T>C (p.Ser894Pro)
c.2473T>C (p.Ser825Pro)
c.2632T>C (p.Ser878Pro)
c.2653T>C (p.Ser885Pro)
n.2780T>C
c.2347T>C (p.Ser783Pro)
c.2605T>C (p.Ser869Pro)
c.2500T>C (p.Ser834Pro)
c.832T>C (p.Ser278Pro)
c.2446T>C (p.Ser816Pro)
c.2524T>C (p.Ser842Pro)
c.2275T>C (p.Ser759Pro)
n.2460T>C
c.2506T>C (p.Ser836Pro)
c.1432T>C (p.Ser478Pro)
n.2487T>C
 dbSNP gnomAD v4
1g.151406403A>TCA341949864POGZc.2680T>A (p.Ser894Thr)
c.2473T>A (p.Ser825Thr)
c.2632T>A (p.Ser878Thr)
c.2653T>A (p.Ser885Thr)
n.2780T>A
c.2347T>A (p.Ser783Thr)
c.2605T>A (p.Ser869Thr)
c.2500T>A (p.Ser834Thr)
c.832T>A (p.Ser278Thr)
c.2446T>A (p.Ser816Thr)
c.2524T>A (p.Ser842Thr)
c.2275T>A (p.Ser759Thr)
n.2460T>A
c.2506T>A (p.Ser836Thr)
c.1432T>A (p.Ser478Thr)
n.2487T>A
1g.151406403_151406406delinsAAGGCA2479570647POGZc.2677_2680delinsCCTT (p.Pro893=)
c.2470_2473delinsCCTT (p.Pro824=)
c.2629_2632delinsCCTT (p.Pro877=)
c.2650_2653delinsCCTT (p.Pro884=)
n.2777_2780delinsCCTT
c.2344_2347delinsCCTT (p.Pro782=)
c.2602_2605delinsCCTT (p.Pro868=)
c.2497_2500delinsCCTT (p.Pro833=)
c.829_832delinsCCTT (p.Pro277=)
c.2443_2446delinsCCTT (p.Pro815=)
c.2521_2524delinsCCTT (p.Pro841=)
c.2272_2275delinsCCTT (p.Pro758=)
n.2457_2460delinsCCTT
c.2503_2506delinsCCTT (p.Pro835=)
c.1429_1432delinsCCTT (p.Pro477=)
n.2484_2487delinsCCTT
1g.151406404A>CCA420909818POGZc.2679T>G (p.Pro893=)
c.2472T>G (p.Pro824=)
c.2631T>G (p.Pro877=)
c.2652T>G (p.Pro884=)
n.2779T>G
c.2346T>G (p.Pro782=)
c.2604T>G (p.Pro868=)
c.2499T>G (p.Pro833=)
c.831T>G (p.Pro277=)
c.2445T>G (p.Pro815=)
c.2523T>G (p.Pro841=)
c.2274T>G (p.Pro758=)
n.2459T>G
c.2505T>G (p.Pro835=)
c.1431T>G (p.Pro477=)
n.2486T>G
1g.151406404A>GCA420909824POGZc.2679T>C (p.Pro893=)
c.2472T>C (p.Pro824=)
c.2631T>C (p.Pro877=)
c.2652T>C (p.Pro884=)
n.2779T>C
c.2346T>C (p.Pro782=)
c.2604T>C (p.Pro868=)
c.2499T>C (p.Pro833=)
c.831T>C (p.Pro277=)
c.2445T>C (p.Pro815=)
c.2523T>C (p.Pro841=)
c.2274T>C (p.Pro758=)
n.2459T>C
c.2505T>C (p.Pro835=)
c.1431T>C (p.Pro477=)
n.2486T>C
 gnomAD v4
1g.151406404A>TCA420909826POGZc.2679T>A (p.Pro893=)
c.2472T>A (p.Pro824=)
c.2631T>A (p.Pro877=)
c.2652T>A (p.Pro884=)
n.2779T>A
c.2346T>A (p.Pro782=)
c.2604T>A (p.Pro868=)
c.2499T>A (p.Pro833=)
c.831T>A (p.Pro277=)
c.2445T>A (p.Pro815=)
c.2523T>A (p.Pro841=)
c.2274T>A (p.Pro758=)
n.2459T>A
c.2505T>A (p.Pro835=)
c.1431T>A (p.Pro477=)
n.2486T>A
1g.151406410_151406412delCA341949867POGZc.2677_2679del (p.Pro893del)
c.2470_2472del (p.Pro824del)
c.2629_2631del (p.Pro877del)
c.2650_2652del (p.Pro884del)
n.2777_2779del
c.2344_2346del (p.Pro782del)
c.2602_2604del (p.Pro868del)
c.2497_2499del (p.Pro833del)
c.829_831del (p.Pro277del)
c.2443_2445del (p.Pro815del)
c.2521_2523del (p.Pro841del)
c.2272_2274del (p.Pro758del)
n.2457_2459del
c.2503_2505del (p.Pro835del)
c.1429_1431del (p.Pro477del)
n.2484_2486del
 dbSNP gnomAD v3 gnomAD v4
1g.151406405G>ACA341949869POGZc.2678C>T (p.Pro893Leu)
c.2471C>T (p.Pro824Leu)
c.2630C>T (p.Pro877Leu)
c.2651C>T (p.Pro884Leu)
n.2778C>T
c.2345C>T (p.Pro782Leu)
c.2603C>T (p.Pro868Leu)
c.2498C>T (p.Pro833Leu)
c.830C>T (p.Pro277Leu)
c.2444C>T (p.Pro815Leu)
c.2522C>T (p.Pro841Leu)
c.2273C>T (p.Pro758Leu)
n.2458C>T
c.2504C>T (p.Pro835Leu)
c.1430C>T (p.Pro477Leu)
n.2485C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406405G>CCA341949871POGZc.2678C>G (p.Pro893Arg)
c.2471C>G (p.Pro824Arg)
c.2630C>G (p.Pro877Arg)
c.2651C>G (p.Pro884Arg)
n.2778C>G
c.2345C>G (p.Pro782Arg)
c.2603C>G (p.Pro868Arg)
c.2498C>G (p.Pro833Arg)
c.830C>G (p.Pro277Arg)
c.2444C>G (p.Pro815Arg)
c.2522C>G (p.Pro841Arg)
c.2273C>G (p.Pro758Arg)
n.2458C>G
c.2504C>G (p.Pro835Arg)
c.1430C>G (p.Pro477Arg)
n.2485C>G
1g.151406405G=CA2479570648POGZc.2678C= (p.Pro893=)
c.2471C= (p.Pro824=)
c.2630C= (p.Pro877=)
c.2651C= (p.Pro884=)
n.2778C=
c.2345C= (p.Pro782=)
c.2603C= (p.Pro868=)
c.2498C= (p.Pro833=)
c.830C= (p.Pro277=)
c.2444C= (p.Pro815=)
c.2522C= (p.Pro841=)
c.2273C= (p.Pro758=)
n.2458C=
c.2504C= (p.Pro835=)
c.1430C= (p.Pro477=)
n.2485C=
1g.151406405G>TCA341949873POGZc.2678C>A (p.Pro893His)
c.2471C>A (p.Pro824His)
c.2630C>A (p.Pro877His)
c.2651C>A (p.Pro884His)
n.2778C>A
c.2345C>A (p.Pro782His)
c.2603C>A (p.Pro868His)
c.2498C>A (p.Pro833His)
c.830C>A (p.Pro277His)
c.2444C>A (p.Pro815His)
c.2522C>A (p.Pro841His)
c.2273C>A (p.Pro758His)
n.2458C>A
c.2504C>A (p.Pro835His)
c.1430C>A (p.Pro477His)
n.2485C>A
1g.151406406G>ACA341949880POGZc.2677C>T (p.Pro893Ser)
c.2470C>T (p.Pro824Ser)
c.2629C>T (p.Pro877Ser)
c.2650C>T (p.Pro884Ser)
n.2777C>T
c.2344C>T (p.Pro782Ser)
c.2602C>T (p.Pro868Ser)
c.2497C>T (p.Pro833Ser)
c.829C>T (p.Pro277Ser)
c.2443C>T (p.Pro815Ser)
c.2521C>T (p.Pro841Ser)
c.2272C>T (p.Pro758Ser)
n.2457C>T
c.2503C>T (p.Pro835Ser)
c.1429C>T (p.Pro477Ser)
n.2484C>T
1g.151406406G>CCA341949878POGZc.2677C>G (p.Pro893Ala)
c.2470C>G (p.Pro824Ala)
c.2629C>G (p.Pro877Ala)
c.2650C>G (p.Pro884Ala)
n.2777C>G
c.2344C>G (p.Pro782Ala)
c.2602C>G (p.Pro868Ala)
c.2497C>G (p.Pro833Ala)
c.829C>G (p.Pro277Ala)
c.2443C>G (p.Pro815Ala)
c.2521C>G (p.Pro841Ala)
c.2272C>G (p.Pro758Ala)
n.2457C>G
c.2503C>G (p.Pro835Ala)
c.1429C>G (p.Pro477Ala)
n.2484C>G
 gnomAD v4
1g.151406406G>TCA341949876POGZc.2677C>A (p.Pro893Thr)
c.2470C>A (p.Pro824Thr)
c.2629C>A (p.Pro877Thr)
c.2650C>A (p.Pro884Thr)
n.2777C>A
c.2344C>A (p.Pro782Thr)
c.2602C>A (p.Pro868Thr)
c.2497C>A (p.Pro833Thr)
c.829C>A (p.Pro277Thr)
c.2443C>A (p.Pro815Thr)
c.2521C>A (p.Pro841Thr)
c.2272C>A (p.Pro758Thr)
n.2457C>A
c.2503C>A (p.Pro835Thr)
c.1429C>A (p.Pro477Thr)
n.2484C>A
1g.151406407A>CCA420909833POGZc.2676T>G (p.Pro892=)
c.2469T>G (p.Pro823=)
c.2628T>G (p.Pro876=)
c.2649T>G (p.Pro883=)
n.2776T>G
c.2343T>G (p.Pro781=)
c.2601T>G (p.Pro867=)
c.2496T>G (p.Pro832=)
c.828T>G (p.Pro276=)
c.2442T>G (p.Pro814=)
c.2520T>G (p.Pro840=)
c.2271T>G (p.Pro757=)
n.2456T>G
c.2502T>G (p.Pro834=)
c.1428T>G (p.Pro476=)
n.2483T>G
1g.151406407A>GCA420909834POGZc.2676T>C (p.Pro892=)
c.2469T>C (p.Pro823=)
c.2628T>C (p.Pro876=)
c.2649T>C (p.Pro883=)
n.2776T>C
c.2343T>C (p.Pro781=)
c.2601T>C (p.Pro867=)
c.2496T>C (p.Pro832=)
c.828T>C (p.Pro276=)
c.2442T>C (p.Pro814=)
c.2520T>C (p.Pro840=)
c.2271T>C (p.Pro757=)
n.2456T>C
c.2502T>C (p.Pro834=)
c.1428T>C (p.Pro476=)
n.2483T>C
1g.151406407A>TCA420909835POGZc.2676T>A (p.Pro892=)
c.2469T>A (p.Pro823=)
c.2628T>A (p.Pro876=)
c.2649T>A (p.Pro883=)
n.2776T>A
c.2343T>A (p.Pro781=)
c.2601T>A (p.Pro867=)
c.2496T>A (p.Pro832=)
c.828T>A (p.Pro276=)
c.2442T>A (p.Pro814=)
c.2520T>A (p.Pro840=)
c.2271T>A (p.Pro757=)
n.2456T>A
c.2502T>A (p.Pro834=)
c.1428T>A (p.Pro476=)
n.2483T>A
1g.151406408G>ACA341949882POGZc.2675C>T (p.Pro892Leu)
c.2468C>T (p.Pro823Leu)
c.2627C>T (p.Pro876Leu)
c.2648C>T (p.Pro883Leu)
n.2775C>T
c.2342C>T (p.Pro781Leu)
c.2600C>T (p.Pro867Leu)
c.2495C>T (p.Pro832Leu)
c.827C>T (p.Pro276Leu)
c.2441C>T (p.Pro814Leu)
c.2519C>T (p.Pro840Leu)
c.2270C>T (p.Pro757Leu)
n.2455C>T
c.2501C>T (p.Pro834Leu)
c.1427C>T (p.Pro476Leu)
n.2482C>T
 ClinVar
1g.151406408G>CCA341949883POGZc.2675C>G (p.Pro892Arg)
c.2468C>G (p.Pro823Arg)
c.2627C>G (p.Pro876Arg)
c.2648C>G (p.Pro883Arg)
n.2775C>G
c.2342C>G (p.Pro781Arg)
c.2600C>G (p.Pro867Arg)
c.2495C>G (p.Pro832Arg)
c.827C>G (p.Pro276Arg)
c.2441C>G (p.Pro814Arg)
c.2519C>G (p.Pro840Arg)
c.2270C>G (p.Pro757Arg)
n.2455C>G
c.2501C>G (p.Pro834Arg)
c.1427C>G (p.Pro476Arg)
n.2482C>G
1g.151406408G>TCA341949885POGZc.2675C>A (p.Pro892His)
c.2468C>A (p.Pro823His)
c.2627C>A (p.Pro876His)
c.2648C>A (p.Pro883His)
n.2775C>A
c.2342C>A (p.Pro781His)
c.2600C>A (p.Pro867His)
c.2495C>A (p.Pro832His)
c.827C>A (p.Pro276His)
c.2441C>A (p.Pro814His)
c.2519C>A (p.Pro840His)
c.2270C>A (p.Pro757His)
n.2455C>A
c.2501C>A (p.Pro834His)
c.1427C>A (p.Pro476His)
n.2482C>A
1g.151406409G>ACA341949887POGZc.2674C>T (p.Pro892Ser)
c.2467C>T (p.Pro823Ser)
c.2626C>T (p.Pro876Ser)
c.2647C>T (p.Pro883Ser)
n.2774C>T
c.2341C>T (p.Pro781Ser)
c.2599C>T (p.Pro867Ser)
c.2494C>T (p.Pro832Ser)
c.826C>T (p.Pro276Ser)
c.2440C>T (p.Pro814Ser)
c.2518C>T (p.Pro840Ser)
c.2269C>T (p.Pro757Ser)
n.2454C>T
c.2500C>T (p.Pro834Ser)
c.1426C>T (p.Pro476Ser)
n.2481C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406409G>CCA341949888POGZc.2674C>G (p.Pro892Ala)
c.2467C>G (p.Pro823Ala)
c.2626C>G (p.Pro876Ala)
c.2647C>G (p.Pro883Ala)
n.2774C>G
c.2341C>G (p.Pro781Ala)
c.2599C>G (p.Pro867Ala)
c.2494C>G (p.Pro832Ala)
c.826C>G (p.Pro276Ala)
c.2440C>G (p.Pro814Ala)
c.2518C>G (p.Pro840Ala)
c.2269C>G (p.Pro757Ala)
n.2454C>G
c.2500C>G (p.Pro834Ala)
c.1426C>G (p.Pro476Ala)
n.2481C>G
1g.151406409G=CA2479570649POGZc.2674C= (p.Pro892=)
c.2467C= (p.Pro823=)
c.2626C= (p.Pro876=)
c.2647C= (p.Pro883=)
n.2774C=
c.2341C= (p.Pro781=)
c.2599C= (p.Pro867=)
c.2494C= (p.Pro832=)
c.826C= (p.Pro276=)
c.2440C= (p.Pro814=)
c.2518C= (p.Pro840=)
c.2269C= (p.Pro757=)
n.2454C=
c.2500C= (p.Pro834=)
c.1426C= (p.Pro476=)
n.2481C=
1g.151406409G>TCA341949891POGZc.2674C>A (p.Pro892Thr)
c.2467C>A (p.Pro823Thr)
c.2626C>A (p.Pro876Thr)
c.2647C>A (p.Pro883Thr)
n.2774C>A
c.2341C>A (p.Pro781Thr)
c.2599C>A (p.Pro867Thr)
c.2494C>A (p.Pro832Thr)
c.826C>A (p.Pro276Thr)
c.2440C>A (p.Pro814Thr)
c.2518C>A (p.Pro840Thr)
c.2269C>A (p.Pro757Thr)
n.2454C>A
c.2500C>A (p.Pro834Thr)
c.1426C>A (p.Pro476Thr)
n.2481C>A
1g.151406410A=CA2479570650POGZc.2673T= (p.Pro891=)
c.2466T= (p.Pro822=)
c.2625T= (p.Pro875=)
c.2646T= (p.Pro882=)
n.2773T=
c.2340T= (p.Pro780=)
c.2598T= (p.Pro866=)
c.2493T= (p.Pro831=)
c.825T= (p.Pro275=)
c.2439T= (p.Pro813=)
c.2517T= (p.Pro839=)
c.2268T= (p.Pro756=)
n.2453T=
c.2499T= (p.Pro833=)
c.1425T= (p.Pro475=)
n.2480T=
1g.151406410A>CCA420909838POGZc.2673T>G (p.Pro891=)
c.2466T>G (p.Pro822=)
c.2625T>G (p.Pro875=)
c.2646T>G (p.Pro882=)
n.2773T>G
c.2340T>G (p.Pro780=)
c.2598T>G (p.Pro866=)
c.2493T>G (p.Pro831=)
c.825T>G (p.Pro275=)
c.2439T>G (p.Pro813=)
c.2517T>G (p.Pro839=)
c.2268T>G (p.Pro756=)
n.2453T>G
c.2499T>G (p.Pro833=)
c.1425T>G (p.Pro475=)
n.2480T>G
1g.151406410A>GCA420909840POGZc.2673T>C (p.Pro891=)
c.2466T>C (p.Pro822=)
c.2625T>C (p.Pro875=)
c.2646T>C (p.Pro882=)
n.2773T>C
c.2340T>C (p.Pro780=)
c.2598T>C (p.Pro866=)
c.2493T>C (p.Pro831=)
c.825T>C (p.Pro275=)
c.2439T>C (p.Pro813=)
c.2517T>C (p.Pro839=)
c.2268T>C (p.Pro756=)
n.2453T>C
c.2499T>C (p.Pro833=)
c.1425T>C (p.Pro475=)
n.2480T>C
 dbSNP gnomAD v4
1g.151406410A>TCA420909844POGZc.2673T>A (p.Pro891=)
c.2466T>A (p.Pro822=)
c.2625T>A (p.Pro875=)
c.2646T>A (p.Pro882=)
n.2773T>A
c.2340T>A (p.Pro780=)
c.2598T>A (p.Pro866=)
c.2493T>A (p.Pro831=)
c.825T>A (p.Pro275=)
c.2439T>A (p.Pro813=)
c.2517T>A (p.Pro839=)
c.2268T>A (p.Pro756=)
n.2453T>A
c.2499T>A (p.Pro833=)
c.1425T>A (p.Pro475=)
n.2480T>A
1g.151406411G>ACA1091089POGZc.2672C>T (p.Pro891Leu)
c.2465C>T (p.Pro822Leu)
c.2624C>T (p.Pro875Leu)
c.2645C>T (p.Pro882Leu)
n.2772C>T
c.2339C>T (p.Pro780Leu)
c.2597C>T (p.Pro866Leu)
c.2492C>T (p.Pro831Leu)
c.824C>T (p.Pro275Leu)
c.2438C>T (p.Pro813Leu)
c.2516C>T (p.Pro839Leu)
c.2267C>T (p.Pro756Leu)
n.2452C>T
c.2498C>T (p.Pro833Leu)
c.1424C>T (p.Pro475Leu)
n.2479C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406411G>CCA341949900POGZc.2672C>G (p.Pro891Arg)
c.2465C>G (p.Pro822Arg)
c.2624C>G (p.Pro875Arg)
c.2645C>G (p.Pro882Arg)
n.2772C>G
c.2339C>G (p.Pro780Arg)
c.2597C>G (p.Pro866Arg)
c.2492C>G (p.Pro831Arg)
c.824C>G (p.Pro275Arg)
c.2438C>G (p.Pro813Arg)
c.2516C>G (p.Pro839Arg)
c.2267C>G (p.Pro756Arg)
n.2452C>G
c.2498C>G (p.Pro833Arg)
c.1424C>G (p.Pro475Arg)
n.2479C>G
 gnomAD v4
1g.151406411G=CA1143672568POGZc.2672C= (p.Pro891=)
c.2465C= (p.Pro822=)
c.2624C= (p.Pro875=)
c.2645C= (p.Pro882=)
n.2772C=
c.2339C= (p.Pro780=)
c.2597C= (p.Pro866=)
c.2492C= (p.Pro831=)
c.824C= (p.Pro275=)
c.2438C= (p.Pro813=)
c.2516C= (p.Pro839=)
c.2267C= (p.Pro756=)
n.2452C=
c.2498C= (p.Pro833=)
c.1424C= (p.Pro475=)
n.2479C=
1g.151406411G>TCA341949904POGZc.2672C>A (p.Pro891His)
c.2465C>A (p.Pro822His)
c.2624C>A (p.Pro875His)
c.2645C>A (p.Pro882His)
n.2772C>A
c.2339C>A (p.Pro780His)
c.2597C>A (p.Pro866His)
c.2492C>A (p.Pro831His)
c.824C>A (p.Pro275His)
c.2438C>A (p.Pro813His)
c.2516C>A (p.Pro839His)
c.2267C>A (p.Pro756His)
n.2452C>A
c.2498C>A (p.Pro833His)
c.1424C>A (p.Pro475His)
n.2479C>A
1g.151406412G>ACA29569510POGZc.2671C>T (p.Pro891Ser)
c.2464C>T (p.Pro822Ser)
c.2623C>T (p.Pro875Ser)
c.2644C>T (p.Pro882Ser)
n.2771C>T
c.2338C>T (p.Pro780Ser)
c.2596C>T (p.Pro866Ser)
c.2491C>T (p.Pro831Ser)
c.823C>T (p.Pro275Ser)
c.2437C>T (p.Pro813Ser)
c.2515C>T (p.Pro839Ser)
c.2266C>T (p.Pro756Ser)
n.2451C>T
c.2497C>T (p.Pro833Ser)
c.1423C>T (p.Pro475Ser)
n.2478C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406412G>CCA341949911POGZc.2671C>G (p.Pro891Ala)
c.2464C>G (p.Pro822Ala)
c.2623C>G (p.Pro875Ala)
c.2644C>G (p.Pro882Ala)
n.2771C>G
c.2338C>G (p.Pro780Ala)
c.2596C>G (p.Pro866Ala)
c.2491C>G (p.Pro831Ala)
c.823C>G (p.Pro275Ala)
c.2437C>G (p.Pro813Ala)
c.2515C>G (p.Pro839Ala)
c.2266C>G (p.Pro756Ala)
n.2451C>G
c.2497C>G (p.Pro833Ala)
c.1423C>G (p.Pro475Ala)
n.2478C>G
1g.151406412G=CA2479570651POGZc.2671C= (p.Pro891=)
c.2464C= (p.Pro822=)
c.2623C= (p.Pro875=)
c.2644C= (p.Pro882=)
n.2771C=
c.2338C= (p.Pro780=)
c.2596C= (p.Pro866=)
c.2491C= (p.Pro831=)
c.823C= (p.Pro275=)
c.2437C= (p.Pro813=)
c.2515C= (p.Pro839=)
c.2266C= (p.Pro756=)
n.2451C=
c.2497C= (p.Pro833=)
c.1423C= (p.Pro475=)
n.2478C=
1g.151406412G>TCA341949914POGZc.2671C>A (p.Pro891Thr)
c.2464C>A (p.Pro822Thr)
c.2623C>A (p.Pro875Thr)
c.2644C>A (p.Pro882Thr)
n.2771C>A
c.2338C>A (p.Pro780Thr)
c.2596C>A (p.Pro866Thr)
c.2491C>A (p.Pro831Thr)
c.823C>A (p.Pro275Thr)
c.2437C>A (p.Pro813Thr)
c.2515C>A (p.Pro839Thr)
c.2266C>A (p.Pro756Thr)
n.2451C>A
c.2497C>A (p.Pro833Thr)
c.1423C>A (p.Pro475Thr)
n.2478C>A
1g.151406413G>ACA420909847POGZc.2670C>T (p.Tyr890=)
c.2463C>T (p.Tyr821=)
c.2622C>T (p.Tyr874=)
c.2643C>T (p.Tyr881=)
n.2770C>T
c.2337C>T (p.Tyr779=)
c.2595C>T (p.Tyr865=)
c.2490C>T (p.Tyr830=)
c.822C>T (p.Tyr274=)
c.2436C>T (p.Tyr812=)
c.2514C>T (p.Tyr838=)
c.2265C>T (p.Tyr755=)
n.2450C>T
c.2496C>T (p.Tyr832=)
c.1422C>T (p.Tyr474=)
n.2477C>T
1g.151406413G>CCA341949918POGZc.2670C>G (p.Tyr890Ter)
c.2463C>G (p.Tyr821Ter)
c.2622C>G (p.Tyr874Ter)
c.2643C>G (p.Tyr881Ter)
n.2770C>G
c.2337C>G (p.Tyr779Ter)
c.2595C>G (p.Tyr865Ter)
c.2490C>G (p.Tyr830Ter)
c.822C>G (p.Tyr274Ter)
c.2436C>G (p.Tyr812Ter)
c.2514C>G (p.Tyr838Ter)
c.2265C>G (p.Tyr755Ter)
n.2450C>G
c.2496C>G (p.Tyr832Ter)
c.1422C>G (p.Tyr474Ter)
n.2477C>G
1g.151406413G>TCA341949921POGZc.2670C>A (p.Tyr890Ter)
c.2463C>A (p.Tyr821Ter)
c.2622C>A (p.Tyr874Ter)
c.2643C>A (p.Tyr881Ter)
n.2770C>A
c.2337C>A (p.Tyr779Ter)
c.2595C>A (p.Tyr865Ter)
c.2490C>A (p.Tyr830Ter)
c.822C>A (p.Tyr274Ter)
c.2436C>A (p.Tyr812Ter)
c.2514C>A (p.Tyr838Ter)
c.2265C>A (p.Tyr755Ter)
n.2450C>A
c.2496C>A (p.Tyr832Ter)
c.1422C>A (p.Tyr474Ter)
n.2477C>A
1g.151406414T>ACA341949925POGZc.2669A>T (p.Tyr890Phe)
c.2462A>T (p.Tyr821Phe)
c.2621A>T (p.Tyr874Phe)
c.2642A>T (p.Tyr881Phe)
n.2769A>T
c.2336A>T (p.Tyr779Phe)
c.2594A>T (p.Tyr865Phe)
c.2489A>T (p.Tyr830Phe)
c.821A>T (p.Tyr274Phe)
c.2435A>T (p.Tyr812Phe)
c.2513A>T (p.Tyr838Phe)
c.2264A>T (p.Tyr755Phe)
n.2449A>T
c.2495A>T (p.Tyr832Phe)
c.1421A>T (p.Tyr474Phe)
n.2476A>T
1g.151406414T>CCA341949932POGZc.2669A>G (p.Tyr890Cys)
c.2462A>G (p.Tyr821Cys)
c.2621A>G (p.Tyr874Cys)
c.2642A>G (p.Tyr881Cys)
n.2769A>G
c.2336A>G (p.Tyr779Cys)
c.2594A>G (p.Tyr865Cys)
c.2489A>G (p.Tyr830Cys)
c.821A>G (p.Tyr274Cys)
c.2435A>G (p.Tyr812Cys)
c.2513A>G (p.Tyr838Cys)
c.2264A>G (p.Tyr755Cys)
n.2449A>G
c.2495A>G (p.Tyr832Cys)
c.1421A>G (p.Tyr474Cys)
n.2476A>G
 dbSNP gnomAD v4
1g.151406414T>GCA341949928POGZc.2669A>C (p.Tyr890Ser)
c.2462A>C (p.Tyr821Ser)
c.2621A>C (p.Tyr874Ser)
c.2642A>C (p.Tyr881Ser)
n.2769A>C
c.2336A>C (p.Tyr779Ser)
c.2594A>C (p.Tyr865Ser)
c.2489A>C (p.Tyr830Ser)
c.821A>C (p.Tyr274Ser)
c.2435A>C (p.Tyr812Ser)
c.2513A>C (p.Tyr838Ser)
c.2264A>C (p.Tyr755Ser)
n.2449A>C
c.2495A>C (p.Tyr832Ser)
c.1421A>C (p.Tyr474Ser)
n.2476A>C
 dbSNP
1g.151406414T=CA2479570652POGZc.2669A= (p.Tyr890=)
c.2462A= (p.Tyr821=)
c.2621A= (p.Tyr874=)
c.2642A= (p.Tyr881=)
n.2769A=
c.2336A= (p.Tyr779=)
c.2594A= (p.Tyr865=)
c.2489A= (p.Tyr830=)
c.821A= (p.Tyr274=)
c.2435A= (p.Tyr812=)
c.2513A= (p.Tyr838=)
c.2264A= (p.Tyr755=)
n.2449A=
c.2495A= (p.Tyr832=)
c.1421A= (p.Tyr474=)
n.2476A=
1g.151406415A>CCA341949934POGZc.2668T>G (p.Tyr890Asp)
c.2461T>G (p.Tyr821Asp)
c.2620T>G (p.Tyr874Asp)
c.2641T>G (p.Tyr881Asp)
n.2768T>G
c.2335T>G (p.Tyr779Asp)
c.2593T>G (p.Tyr865Asp)
c.2488T>G (p.Tyr830Asp)
c.820T>G (p.Tyr274Asp)
c.2434T>G (p.Tyr812Asp)
c.2512T>G (p.Tyr838Asp)
c.2263T>G (p.Tyr755Asp)
n.2448T>G
c.2494T>G (p.Tyr832Asp)
c.1420T>G (p.Tyr474Asp)
n.2475T>G
1g.151406415A>GCA341949938POGZc.2668T>C (p.Tyr890His)
c.2461T>C (p.Tyr821His)
c.2620T>C (p.Tyr874His)
c.2641T>C (p.Tyr881His)
n.2768T>C
c.2335T>C (p.Tyr779His)
c.2593T>C (p.Tyr865His)
c.2488T>C (p.Tyr830His)
c.820T>C (p.Tyr274His)
c.2434T>C (p.Tyr812His)
c.2512T>C (p.Tyr838His)
c.2263T>C (p.Tyr755His)
n.2448T>C
c.2494T>C (p.Tyr832His)
c.1420T>C (p.Tyr474His)
n.2475T>C
 gnomAD v4
1g.151406415A>TCA341949939POGZc.2668T>A (p.Tyr890Asn)
c.2461T>A (p.Tyr821Asn)
c.2620T>A (p.Tyr874Asn)
c.2641T>A (p.Tyr881Asn)
n.2768T>A
c.2335T>A (p.Tyr779Asn)
c.2593T>A (p.Tyr865Asn)
c.2488T>A (p.Tyr830Asn)
c.820T>A (p.Tyr274Asn)
c.2434T>A (p.Tyr812Asn)
c.2512T>A (p.Tyr838Asn)
c.2263T>A (p.Tyr755Asn)
n.2448T>A
c.2494T>A (p.Tyr832Asn)
c.1420T>A (p.Tyr474Asn)
n.2475T>A
1g.151406416C>ACA341949944POGZc.2667G>T (p.Met889Ile)
c.2460G>T (p.Met820Ile)
c.2619G>T (p.Met873Ile)
c.2640G>T (p.Met880Ile)
n.2767G>T
c.2334G>T (p.Met778Ile)
c.2592G>T (p.Met864Ile)
c.2487G>T (p.Met829Ile)
c.819G>T (p.Met273Ile)
c.2433G>T (p.Met811Ile)
c.2511G>T (p.Met837Ile)
c.2262G>T (p.Met754Ile)
n.2447G>T
c.2493G>T (p.Met831Ile)
c.1419G>T (p.Met473Ile)
n.2474G>T
1g.151406416C=CA2479570653POGZc.2667G= (p.Met889=)
c.2460G= (p.Met820=)
c.2619G= (p.Met873=)
c.2640G= (p.Met880=)
n.2767G=
c.2334G= (p.Met778=)
c.2592G= (p.Met864=)
c.2487G= (p.Met829=)
c.819G= (p.Met273=)
c.2433G= (p.Met811=)
c.2511G= (p.Met837=)
c.2262G= (p.Met754=)
n.2447G=
c.2493G= (p.Met831=)
c.1419G= (p.Met473=)
n.2474G=
1g.151406416C>GCA341949947POGZc.2667G>C (p.Met889Ile)
c.2460G>C (p.Met820Ile)
c.2619G>C (p.Met873Ile)
c.2640G>C (p.Met880Ile)
n.2767G>C
c.2334G>C (p.Met778Ile)
c.2592G>C (p.Met864Ile)
c.2487G>C (p.Met829Ile)
c.819G>C (p.Met273Ile)
c.2433G>C (p.Met811Ile)
c.2511G>C (p.Met837Ile)
c.2262G>C (p.Met754Ile)
n.2447G>C
c.2493G>C (p.Met831Ile)
c.1419G>C (p.Met473Ile)
n.2474G>C
1g.151406416C>TCA341949950POGZc.2667G>A (p.Met889Ile)
c.2460G>A (p.Met820Ile)
c.2619G>A (p.Met873Ile)
c.2640G>A (p.Met880Ile)
n.2767G>A
c.2334G>A (p.Met778Ile)
c.2592G>A (p.Met864Ile)
c.2487G>A (p.Met829Ile)
c.819G>A (p.Met273Ile)
c.2433G>A (p.Met811Ile)
c.2511G>A (p.Met837Ile)
c.2262G>A (p.Met754Ile)
n.2447G>A
c.2493G>A (p.Met831Ile)
c.1419G>A (p.Met473Ile)
n.2474G>A
 dbSNP
1g.151406417A=CA2479570654POGZc.2666T= (p.Met889=)
c.2459T= (p.Met820=)
c.2618T= (p.Met873=)
c.2639T= (p.Met880=)
n.2766T=
c.2333T= (p.Met778=)
c.2591T= (p.Met864=)
c.2486T= (p.Met829=)
c.818T= (p.Met273=)
c.2432T= (p.Met811=)
c.2510T= (p.Met837=)
c.2261T= (p.Met754=)
n.2446T=
c.2492T= (p.Met831=)
c.1418T= (p.Met473=)
n.2473T=
1g.151406417A>CCA341949952POGZc.2666T>G (p.Met889Arg)
c.2459T>G (p.Met820Arg)
c.2618T>G (p.Met873Arg)
c.2639T>G (p.Met880Arg)
n.2766T>G
c.2333T>G (p.Met778Arg)
c.2591T>G (p.Met864Arg)
c.2486T>G (p.Met829Arg)
c.818T>G (p.Met273Arg)
c.2432T>G (p.Met811Arg)
c.2510T>G (p.Met837Arg)
c.2261T>G (p.Met754Arg)
n.2446T>G
c.2492T>G (p.Met831Arg)
c.1418T>G (p.Met473Arg)
n.2473T>G
1g.151406417A>GCA341949956POGZc.2666T>C (p.Met889Thr)
c.2459T>C (p.Met820Thr)
c.2618T>C (p.Met873Thr)
c.2639T>C (p.Met880Thr)
n.2766T>C
c.2333T>C (p.Met778Thr)
c.2591T>C (p.Met864Thr)
c.2486T>C (p.Met829Thr)
c.818T>C (p.Met273Thr)
c.2432T>C (p.Met811Thr)
c.2510T>C (p.Met837Thr)
c.2261T>C (p.Met754Thr)
n.2446T>C
c.2492T>C (p.Met831Thr)
c.1418T>C (p.Met473Thr)
n.2473T>C
 dbSNP gnomAD v4
1g.151406417A>TCA341949959POGZc.2666T>A (p.Met889Lys)
c.2459T>A (p.Met820Lys)
c.2618T>A (p.Met873Lys)
c.2639T>A (p.Met880Lys)
n.2766T>A
c.2333T>A (p.Met778Lys)
c.2591T>A (p.Met864Lys)
c.2486T>A (p.Met829Lys)
c.818T>A (p.Met273Lys)
c.2432T>A (p.Met811Lys)
c.2510T>A (p.Met837Lys)
c.2261T>A (p.Met754Lys)
n.2446T>A
c.2492T>A (p.Met831Lys)
c.1418T>A (p.Met473Lys)
n.2473T>A
1g.151406418T>ACA341949962POGZc.2665A>T (p.Met889Leu)
c.2458A>T (p.Met820Leu)
c.2617A>T (p.Met873Leu)
c.2638A>T (p.Met880Leu)
n.2765A>T
c.2332A>T (p.Met778Leu)
c.2590A>T (p.Met864Leu)
c.2485A>T (p.Met829Leu)
c.817A>T (p.Met273Leu)
c.2431A>T (p.Met811Leu)
c.2509A>T (p.Met837Leu)
c.2260A>T (p.Met754Leu)
n.2445A>T
c.2491A>T (p.Met831Leu)
c.1417A>T (p.Met473Leu)
n.2472A>T
1g.151406418T>CCA341949965POGZc.2665A>G (p.Met889Val)
c.2458A>G (p.Met820Val)
c.2617A>G (p.Met873Val)
c.2638A>G (p.Met880Val)
n.2765A>G
c.2332A>G (p.Met778Val)
c.2590A>G (p.Met864Val)
c.2485A>G (p.Met829Val)
c.817A>G (p.Met273Val)
c.2431A>G (p.Met811Val)
c.2509A>G (p.Met837Val)
c.2260A>G (p.Met754Val)
n.2445A>G
c.2491A>G (p.Met831Val)
c.1417A>G (p.Met473Val)
n.2472A>G
 gnomAD v4
1g.151406418T>GCA341949969POGZc.2665A>C (p.Met889Leu)
c.2458A>C (p.Met820Leu)
c.2617A>C (p.Met873Leu)
c.2638A>C (p.Met880Leu)
n.2765A>C
c.2332A>C (p.Met778Leu)
c.2590A>C (p.Met864Leu)
c.2485A>C (p.Met829Leu)
c.817A>C (p.Met273Leu)
c.2431A>C (p.Met811Leu)
c.2509A>C (p.Met837Leu)
c.2260A>C (p.Met754Leu)
n.2445A>C
c.2491A>C (p.Met831Leu)
c.1417A>C (p.Met473Leu)
n.2472A>C
1g.151406418_151406419delinsTACA2479570655POGZc.2664_2665delinsTA (p.Asn888=)
c.2457_2458delinsTA (p.Asn819=)
c.2616_2617delinsTA (p.Asn872=)
c.2637_2638delinsTA (p.Asn879=)
n.2764_2765delinsTA
c.2331_2332delinsTA (p.Asn777=)
c.2589_2590delinsTA (p.Asn863=)
c.2484_2485delinsTA (p.Asn828=)
c.816_817delinsTA (p.Asn272=)
c.2430_2431delinsTA (p.Asn810=)
c.2508_2509delinsTA (p.Asn836=)
c.2259_2260delinsTA (p.Asn753=)
n.2444_2445delinsTA
c.2490_2491delinsTA (p.Asn830=)
c.1416_1417delinsTA (p.Asn472=)
n.2471_2472delinsTA
1g.151406419delCA16616970POGZc.2664del (p.Asn888LysfsTer16)
c.2457del (p.Asn819LysfsTer16)
c.2616del (p.Asn872LysfsTer16)
c.2637del (p.Asn879LysfsTer16)
n.2764del
c.2331del (p.Asn777LysfsTer16)
c.2589del (p.Asn863LysfsTer16)
c.2484del (p.Asn828LysfsTer16)
c.816del (p.Asn272LysfsTer16)
c.2430del (p.Asn810LysfsTer16)
c.2508del (p.Asn836LysfsTer16)
c.2259del (p.Asn753LysfsTer16)
n.2444del
c.2490del (p.Asn830LysfsTer16)
c.1416del (p.Asn472LysfsTer16)
n.2471del
 ClinVar dbSNP
1g.151406419A>CCA341949976POGZc.2664T>G (p.Asn888Lys)
c.2457T>G (p.Asn819Lys)
c.2616T>G (p.Asn872Lys)
c.2637T>G (p.Asn879Lys)
n.2764T>G
c.2331T>G (p.Asn777Lys)
c.2589T>G (p.Asn863Lys)
c.2484T>G (p.Asn828Lys)
c.816T>G (p.Asn272Lys)
c.2430T>G (p.Asn810Lys)
c.2508T>G (p.Asn836Lys)
c.2259T>G (p.Asn753Lys)
n.2444T>G
c.2490T>G (p.Asn830Lys)
c.1416T>G (p.Asn472Lys)
n.2471T>G
1g.151406419A>GCA420909865POGZc.2664T>C (p.Asn888=)
c.2457T>C (p.Asn819=)
c.2616T>C (p.Asn872=)
c.2637T>C (p.Asn879=)
n.2764T>C
c.2331T>C (p.Asn777=)
c.2589T>C (p.Asn863=)
c.2484T>C (p.Asn828=)
c.816T>C (p.Asn272=)
c.2430T>C (p.Asn810=)
c.2508T>C (p.Asn836=)
c.2259T>C (p.Asn753=)
n.2444T>C
c.2490T>C (p.Asn830=)
c.1416T>C (p.Asn472=)
n.2471T>C
1g.151406419A>TCA341949973POGZc.2664T>A (p.Asn888Lys)
c.2457T>A (p.Asn819Lys)
c.2616T>A (p.Asn872Lys)
c.2637T>A (p.Asn879Lys)
n.2764T>A
c.2331T>A (p.Asn777Lys)
c.2589T>A (p.Asn863Lys)
c.2484T>A (p.Asn828Lys)
c.816T>A (p.Asn272Lys)
c.2430T>A (p.Asn810Lys)
c.2508T>A (p.Asn836Lys)
c.2259T>A (p.Asn753Lys)
n.2444T>A
c.2490T>A (p.Asn830Lys)
c.1416T>A (p.Asn472Lys)
n.2471T>A
1g.151406420T>ACA341949980POGZc.2663A>T (p.Asn888Ile)
c.2456A>T (p.Asn819Ile)
c.2615A>T (p.Asn872Ile)
c.2636A>T (p.Asn879Ile)
n.2763A>T
c.2330A>T (p.Asn777Ile)
c.2588A>T (p.Asn863Ile)
c.2483A>T (p.Asn828Ile)
c.815A>T (p.Asn272Ile)
c.2429A>T (p.Asn810Ile)
c.2507A>T (p.Asn836Ile)
c.2258A>T (p.Asn753Ile)
n.2443A>T
c.2489A>T (p.Asn830Ile)
c.1415A>T (p.Asn472Ile)
n.2470A>T
1g.151406420T>CCA341949983POGZc.2663A>G (p.Asn888Ser)
c.2456A>G (p.Asn819Ser)
c.2615A>G (p.Asn872Ser)
c.2636A>G (p.Asn879Ser)
n.2763A>G
c.2330A>G (p.Asn777Ser)
c.2588A>G (p.Asn863Ser)
c.2483A>G (p.Asn828Ser)
c.815A>G (p.Asn272Ser)
c.2429A>G (p.Asn810Ser)
c.2507A>G (p.Asn836Ser)
c.2258A>G (p.Asn753Ser)
n.2443A>G
c.2489A>G (p.Asn830Ser)
c.1415A>G (p.Asn472Ser)
n.2470A>G
1g.151406420T>GCA341949986POGZc.2663A>C (p.Asn888Thr)
c.2456A>C (p.Asn819Thr)
c.2615A>C (p.Asn872Thr)
c.2636A>C (p.Asn879Thr)
n.2763A>C
c.2330A>C (p.Asn777Thr)
c.2588A>C (p.Asn863Thr)
c.2483A>C (p.Asn828Thr)
c.815A>C (p.Asn272Thr)
c.2429A>C (p.Asn810Thr)
c.2507A>C (p.Asn836Thr)
c.2258A>C (p.Asn753Thr)
n.2443A>C
c.2489A>C (p.Asn830Thr)
c.1415A>C (p.Asn472Thr)
n.2470A>C
1g.151406421T>ACA341949992POGZc.2662A>T (p.Asn888Tyr)
c.2455A>T (p.Asn819Tyr)
c.2614A>T (p.Asn872Tyr)
c.2635A>T (p.Asn879Tyr)
n.2762A>T
c.2329A>T (p.Asn777Tyr)
c.2587A>T (p.Asn863Tyr)
c.2482A>T (p.Asn828Tyr)
c.814A>T (p.Asn272Tyr)
c.2428A>T (p.Asn810Tyr)
c.2506A>T (p.Asn836Tyr)
c.2257A>T (p.Asn753Tyr)
n.2442A>T
c.2488A>T (p.Asn830Tyr)
c.1414A>T (p.Asn472Tyr)
n.2469A>T
1g.151406421T>CCA341949994POGZc.2662A>G (p.Asn888Asp)
c.2455A>G (p.Asn819Asp)
c.2614A>G (p.Asn872Asp)
c.2635A>G (p.Asn879Asp)
n.2762A>G
c.2329A>G (p.Asn777Asp)
c.2587A>G (p.Asn863Asp)
c.2482A>G (p.Asn828Asp)
c.814A>G (p.Asn272Asp)
c.2428A>G (p.Asn810Asp)
c.2506A>G (p.Asn836Asp)
c.2257A>G (p.Asn753Asp)
n.2442A>G
c.2488A>G (p.Asn830Asp)
c.1414A>G (p.Asn472Asp)
n.2469A>G
1g.151406421T>GCA341949999POGZc.2662A>C (p.Asn888His)
c.2455A>C (p.Asn819His)
c.2614A>C (p.Asn872His)
c.2635A>C (p.Asn879His)
n.2762A>C
c.2329A>C (p.Asn777His)
c.2587A>C (p.Asn863His)
c.2482A>C (p.Asn828His)
c.814A>C (p.Asn272His)
c.2428A>C (p.Asn810His)
c.2506A>C (p.Asn836His)
c.2257A>C (p.Asn753His)
n.2442A>C
c.2488A>C (p.Asn830His)
c.1414A>C (p.Asn472His)
n.2469A>C
1g.151406422C>ACA341950004POGZc.2661G>T (p.Lys887Asn)
c.2454G>T (p.Lys818Asn)
c.2613G>T (p.Lys871Asn)
c.2634G>T (p.Lys878Asn)
n.2761G>T
c.2328G>T (p.Lys776Asn)
c.2586G>T (p.Lys862Asn)
c.2481G>T (p.Lys827Asn)
c.813G>T (p.Lys271Asn)
c.2427G>T (p.Lys809Asn)
c.2505G>T (p.Lys835Asn)
c.2256G>T (p.Lys752Asn)
n.2441G>T
c.2487G>T (p.Lys829Asn)
c.1413G>T (p.Lys471Asn)
n.2468G>T
 dbSNP
1g.151406422C=CA2479570656POGZc.2661G= (p.Lys887=)
c.2454G= (p.Lys818=)
c.2613G= (p.Lys871=)
c.2634G= (p.Lys878=)
n.2761G=
c.2328G= (p.Lys776=)
c.2586G= (p.Lys862=)
c.2481G= (p.Lys827=)
c.813G= (p.Lys271=)
c.2427G= (p.Lys809=)
c.2505G= (p.Lys835=)
c.2256G= (p.Lys752=)
n.2441G=
c.2487G= (p.Lys829=)
c.1413G= (p.Lys471=)
n.2468G=
1g.151406422C>GCA341950007POGZc.2661G>C (p.Lys887Asn)
c.2454G>C (p.Lys818Asn)
c.2613G>C (p.Lys871Asn)
c.2634G>C (p.Lys878Asn)
n.2761G>C
c.2328G>C (p.Lys776Asn)
c.2586G>C (p.Lys862Asn)
c.2481G>C (p.Lys827Asn)
c.813G>C (p.Lys271Asn)
c.2427G>C (p.Lys809Asn)
c.2505G>C (p.Lys835Asn)
c.2256G>C (p.Lys752Asn)
n.2441G>C
c.2487G>C (p.Lys829Asn)
c.1413G>C (p.Lys471Asn)
n.2468G>C
1g.151406422C>TCA1091090POGZc.2661G>A (p.Lys887=)
c.2454G>A (p.Lys818=)
c.2613G>A (p.Lys871=)
c.2634G>A (p.Lys878=)
n.2761G>A
c.2328G>A (p.Lys776=)
c.2586G>A (p.Lys862=)
c.2481G>A (p.Lys827=)
c.813G>A (p.Lys271=)
c.2427G>A (p.Lys809=)
c.2505G>A (p.Lys835=)
c.2256G>A (p.Lys752=)
n.2441G>A
c.2487G>A (p.Lys829=)
c.1413G>A (p.Lys471=)
n.2468G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406423T>ACA341950012POGZc.2660A>T (p.Lys887Met)
c.2453A>T (p.Lys818Met)
c.2612A>T (p.Lys871Met)
c.2633A>T (p.Lys878Met)
n.2760A>T
c.2327A>T (p.Lys776Met)
c.2585A>T (p.Lys862Met)
c.2480A>T (p.Lys827Met)
c.812A>T (p.Lys271Met)
c.2426A>T (p.Lys809Met)
c.2504A>T (p.Lys835Met)
c.2255A>T (p.Lys752Met)
n.2440A>T
c.2486A>T (p.Lys829Met)
c.1412A>T (p.Lys471Met)
n.2467A>T
1g.151406423T>CCA341950014POGZc.2660A>G (p.Lys887Arg)
c.2453A>G (p.Lys818Arg)
c.2612A>G (p.Lys871Arg)
c.2633A>G (p.Lys878Arg)
n.2760A>G
c.2327A>G (p.Lys776Arg)
c.2585A>G (p.Lys862Arg)
c.2480A>G (p.Lys827Arg)
c.812A>G (p.Lys271Arg)
c.2426A>G (p.Lys809Arg)
c.2504A>G (p.Lys835Arg)
c.2255A>G (p.Lys752Arg)
n.2440A>G
c.2486A>G (p.Lys829Arg)
c.1412A>G (p.Lys471Arg)
n.2467A>G
1g.151406423T>GCA341950018POGZc.2660A>C (p.Lys887Thr)
c.2453A>C (p.Lys818Thr)
c.2612A>C (p.Lys871Thr)
c.2633A>C (p.Lys878Thr)
n.2760A>C
c.2327A>C (p.Lys776Thr)
c.2585A>C (p.Lys862Thr)
c.2480A>C (p.Lys827Thr)
c.812A>C (p.Lys271Thr)
c.2426A>C (p.Lys809Thr)
c.2504A>C (p.Lys835Thr)
c.2255A>C (p.Lys752Thr)
n.2440A>C
c.2486A>C (p.Lys829Thr)
c.1412A>C (p.Lys471Thr)
n.2467A>C
1g.151406424T>ACA341950029POGZc.2659A>T (p.Lys887Ter)
c.2452A>T (p.Lys818Ter)
c.2611A>T (p.Lys871Ter)
c.2632A>T (p.Lys878Ter)
n.2759A>T
c.2326A>T (p.Lys776Ter)
c.2584A>T (p.Lys862Ter)
c.2479A>T (p.Lys827Ter)
c.811A>T (p.Lys271Ter)
c.2425A>T (p.Lys809Ter)
c.2503A>T (p.Lys835Ter)
c.2254A>T (p.Lys752Ter)
n.2439A>T
c.2485A>T (p.Lys829Ter)
c.1411A>T (p.Lys471Ter)
n.2466A>T
1g.151406424T>CCA341950026POGZc.2659A>G (p.Lys887Glu)
c.2452A>G (p.Lys818Glu)
c.2611A>G (p.Lys871Glu)
c.2632A>G (p.Lys878Glu)
n.2759A>G
c.2326A>G (p.Lys776Glu)
c.2584A>G (p.Lys862Glu)
c.2479A>G (p.Lys827Glu)
c.811A>G (p.Lys271Glu)
c.2425A>G (p.Lys809Glu)
c.2503A>G (p.Lys835Glu)
c.2254A>G (p.Lys752Glu)
n.2439A>G
c.2485A>G (p.Lys829Glu)
c.1411A>G (p.Lys471Glu)
n.2466A>G
1g.151406424T>GCA341950022POGZc.2659A>C (p.Lys887Gln)
c.2452A>C (p.Lys818Gln)
c.2611A>C (p.Lys871Gln)
c.2632A>C (p.Lys878Gln)
n.2759A>C
c.2326A>C (p.Lys776Gln)
c.2584A>C (p.Lys862Gln)
c.2479A>C (p.Lys827Gln)
c.811A>C (p.Lys271Gln)
c.2425A>C (p.Lys809Gln)
c.2503A>C (p.Lys835Gln)
c.2254A>C (p.Lys752Gln)
n.2439A>C
c.2485A>C (p.Lys829Gln)
c.1411A>C (p.Lys471Gln)
n.2466A>C
1g.151406425C>ACA420909875POGZc.2658G>T (p.Val886=)
c.2451G>T (p.Val817=)
c.2610G>T (p.Val870=)
c.2631G>T (p.Val877=)
n.2758G>T
c.2325G>T (p.Val775=)
c.2583G>T (p.Val861=)
c.2478G>T (p.Val826=)
c.810G>T (p.Val270=)
c.2424G>T (p.Val808=)
c.2502G>T (p.Val834=)
c.2253G>T (p.Val751=)
n.2438G>T
c.2484G>T (p.Val828=)
c.1410G>T (p.Val470=)
n.2465G>T
 gnomAD v4
1g.151406425C=CA2479570657POGZc.2658G= (p.Val886=)
c.2451G= (p.Val817=)
c.2610G= (p.Val870=)
c.2631G= (p.Val877=)
n.2758G=
c.2325G= (p.Val775=)
c.2583G= (p.Val861=)
c.2478G= (p.Val826=)
c.810G= (p.Val270=)
c.2424G= (p.Val808=)
c.2502G= (p.Val834=)
c.2253G= (p.Val751=)
n.2438G=
c.2484G= (p.Val828=)
c.1410G= (p.Val470=)
n.2465G=
1g.151406425C>GCA420909876POGZc.2658G>C (p.Val886=)
c.2451G>C (p.Val817=)
c.2610G>C (p.Val870=)
c.2631G>C (p.Val877=)
n.2758G>C
c.2325G>C (p.Val775=)
c.2583G>C (p.Val861=)
c.2478G>C (p.Val826=)
c.810G>C (p.Val270=)
c.2424G>C (p.Val808=)
c.2502G>C (p.Val834=)
c.2253G>C (p.Val751=)
n.2438G>C
c.2484G>C (p.Val828=)
c.1410G>C (p.Val470=)
n.2465G>C
1g.151406425C>TCA420909877POGZc.2658G>A (p.Val886=)
c.2451G>A (p.Val817=)
c.2610G>A (p.Val870=)
c.2631G>A (p.Val877=)
n.2758G>A
c.2325G>A (p.Val775=)
c.2583G>A (p.Val861=)
c.2478G>A (p.Val826=)
c.810G>A (p.Val270=)
c.2424G>A (p.Val808=)
c.2502G>A (p.Val834=)
c.2253G>A (p.Val751=)
n.2438G>A
c.2484G>A (p.Val828=)
c.1410G>A (p.Val470=)
n.2465G>A
 dbSNP
1g.151406426A>CCA341950031POGZc.2657T>G (p.Val886Gly)
c.2450T>G (p.Val817Gly)
c.2609T>G (p.Val870Gly)
c.2630T>G (p.Val877Gly)
n.2757T>G
c.2324T>G (p.Val775Gly)
c.2582T>G (p.Val861Gly)
c.2477T>G (p.Val826Gly)
c.809T>G (p.Val270Gly)
c.2423T>G (p.Val808Gly)
c.2501T>G (p.Val834Gly)
c.2252T>G (p.Val751Gly)
n.2437T>G
c.2483T>G (p.Val828Gly)
c.1409T>G (p.Val470Gly)
n.2464T>G
1g.151406426A>GCA341950032POGZc.2657T>C (p.Val886Ala)
c.2450T>C (p.Val817Ala)
c.2609T>C (p.Val870Ala)
c.2630T>C (p.Val877Ala)
n.2757T>C
c.2324T>C (p.Val775Ala)
c.2582T>C (p.Val861Ala)
c.2477T>C (p.Val826Ala)
c.809T>C (p.Val270Ala)
c.2423T>C (p.Val808Ala)
c.2501T>C (p.Val834Ala)
c.2252T>C (p.Val751Ala)
n.2437T>C
c.2483T>C (p.Val828Ala)
c.1409T>C (p.Val470Ala)
n.2464T>C
1g.151406426A>TCA341950036POGZc.2657T>A (p.Val886Glu)
c.2450T>A (p.Val817Glu)
c.2609T>A (p.Val870Glu)
c.2630T>A (p.Val877Glu)
n.2757T>A
c.2324T>A (p.Val775Glu)
c.2582T>A (p.Val861Glu)
c.2477T>A (p.Val826Glu)
c.809T>A (p.Val270Glu)
c.2423T>A (p.Val808Glu)
c.2501T>A (p.Val834Glu)
c.2252T>A (p.Val751Glu)
n.2437T>A
c.2483T>A (p.Val828Glu)
c.1409T>A (p.Val470Glu)
n.2464T>A
1g.151406427C>ACA29569516POGZc.2656G>T (p.Val886Leu)
c.2449G>T (p.Val817Leu)
c.2608G>T (p.Val870Leu)
c.2629G>T (p.Val877Leu)
n.2756G>T
c.2323G>T (p.Val775Leu)
c.2581G>T (p.Val861Leu)
c.2476G>T (p.Val826Leu)
c.808G>T (p.Val270Leu)
c.2422G>T (p.Val808Leu)
c.2500G>T (p.Val834Leu)
c.2251G>T (p.Val751Leu)
n.2436G>T
c.2482G>T (p.Val828Leu)
c.1408G>T (p.Val470Leu)
n.2463G>T
 dbSNP gnomAD v4
1g.151406427C=CA2479570658POGZc.2656G= (p.Val886=)
c.2449G= (p.Val817=)
c.2608G= (p.Val870=)
c.2629G= (p.Val877=)
n.2756G=
c.2323G= (p.Val775=)
c.2581G= (p.Val861=)
c.2476G= (p.Val826=)
c.808G= (p.Val270=)
c.2422G= (p.Val808=)
c.2500G= (p.Val834=)
c.2251G= (p.Val751=)
n.2436G=
c.2482G= (p.Val828=)
c.1408G= (p.Val470=)
n.2463G=
1g.151406427C>GCA341950042POGZc.2656G>C (p.Val886Leu)
c.2449G>C (p.Val817Leu)
c.2608G>C (p.Val870Leu)
c.2629G>C (p.Val877Leu)
n.2756G>C
c.2323G>C (p.Val775Leu)
c.2581G>C (p.Val861Leu)
c.2476G>C (p.Val826Leu)
c.808G>C (p.Val270Leu)
c.2422G>C (p.Val808Leu)
c.2500G>C (p.Val834Leu)
c.2251G>C (p.Val751Leu)
n.2436G>C
c.2482G>C (p.Val828Leu)
c.1408G>C (p.Val470Leu)
n.2463G>C
1g.151406427C>TCA1091091POGZc.2656G>A (p.Val886Met)
c.2449G>A (p.Val817Met)
c.2608G>A (p.Val870Met)
c.2629G>A (p.Val877Met)
n.2756G>A
c.2323G>A (p.Val775Met)
c.2581G>A (p.Val861Met)
c.2476G>A (p.Val826Met)
c.808G>A (p.Val270Met)
c.2422G>A (p.Val808Met)
c.2500G>A (p.Val834Met)
c.2251G>A (p.Val751Met)
n.2436G>A
c.2482G>A (p.Val828Met)
c.1408G>A (p.Val470Met)
n.2463G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched